dbVar data for all organisms

Please click here to confirm download.

Supporting Variant Placements for nstd102 (displaying 100 of 88454 variants)
Study ID	Variant ID	Variant Call type	Sampleset ID	Method	Analysis ID	Validation	Subject phenotype	Clinical Interpretation	Assembly	Accession	Chr	Outer-Start	Start	Inner-Start	Inner-End	End	Outer-End	Placement Type	Remap Score
nstd102	nssv15124731	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			14874	7467242		7467242	Remapped	1.00097
nstd102	nssv15126343	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1	762414		762414	2636399		2636399	Remapped	1.00211
nstd102	nssv15127013	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			14874	8785327		8785327	Remapped	1.00082
nstd102	nssv15127493	copy number loss	1	Multiple	Multiple	No	See cases	Benign	GRCh38.p12	NC_000001.11	1			585989	714397		743442	Remapped	0.61144
nstd102	nssv15128257	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1	778764		778764	2950871		2950871	Remapped	1.00874
nstd102	nssv15128480	copy number loss	1	Multiple	Multiple	No	See cases	Benign	GRCh38.p12	NC_000001.11	1	258946		258946	714338		714338	Remapped	1.08164
nstd102	nssv15129004	copy number gain	1	Multiple	Multiple	No	See cases	Uncertain significance	GRCh38.p12	NC_000001.11	1			14874	297968			Remapped	0.80018
nstd102	nssv15141866	copy number gain	1	Multiple	Multiple	No	See cases	Benign	GRCh38.p12	NC_000001.11	1			868609	931034			Remapped	1
nstd102	nssv15147705	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			811228	14750663			Remapped	0.97271
nstd102	nssv15149099	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	12639316			Remapped	0.99524
nstd102	nssv15149498	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	6445218			Remapped	0.97796
nstd102	nssv15149511	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2622836			Remapped	1.00231
nstd102	nssv15149867	copy number gain	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914087	248930485			Remapped	0.99856
nstd102	nssv15149872	copy number gain	1	Multiple	Multiple	No	See cases	Uncertain significance	GRCh38.p12	NC_000001.11	1			914086	1731963			Remapped	1.00484
nstd102	nssv15149906	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2675577			Remapped	1.00224
nstd102	nssv15149963	copy number loss	1	Multiple	Multiple	No	See cases	Uncertain significance	GRCh38.p12	NC_000001.11	1			914086	1027573			Remapped	1
nstd102	nssv15150044	copy number gain	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			19225	4341631			Remapped	0.9863
nstd102	nssv15150122	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			629044	3665494			Remapped	1.00624
nstd102	nssv15150387	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2832272			Remapped	1.00991
nstd102	nssv15150640	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	7577000			Remapped	0.98163
nstd102	nssv15150649	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			911300	3487859			Remapped	1.00736
nstd102	nssv15150673	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			911300	4027367			Remapped	0.98899
nstd102	nssv15150722	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	6314149			Remapped	0.97743
nstd102	nssv15150775	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	5292432			Remapped	0.97231
nstd102	nssv15151108	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	3988475			Remapped	0.96103
nstd102	nssv15151118	copy number gain	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914087	248930485			Remapped	0.99856
nstd102	nssv15151211	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2398899			Remapped	1.00266
nstd102	nssv15151605	copy number loss	1	Multiple	Multiple	No	Cardiomyopathy, Dilated;Dilated cardiomyopathy;Hearing abnormality;Hearing abnormality;Hypotonia;Muscular hypotonia;Primary dilated cardiomyopathy	Pathogenic	GRCh38.p12	NC_000001.11	1			898721	6016080			Remapped	0.97622
nstd102	nssv15151888	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	8841879			Remapped	0.98452
nstd102	nssv15154020	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	1379057			Remapped	1
nstd102	nssv15156370	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2309193			Remapped	1.00283
nstd102	nssv15156371	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	4202855			Remapped	0.96347
nstd102	nssv15156372	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	7245535			Remapped	0.98069
nstd102	nssv15156632	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	1101579			Remapped	1.06768
nstd102	nssv15156633	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			82154	1291132			Remapped	1.05647
nstd102	nssv15156634	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			82154	1354483			Remapped	1.05351
nstd102	nssv15156635	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	3424291			Remapped	1.0256
nstd102	nssv15156636	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			99236	297968			Remapped	0.63842
nstd102	nssv15156637	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			611476	650815			Remapped	1
nstd102	nssv15156638	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			778658	791018			Remapped	1
nstd102	nssv15156639	copy number loss	1	Multiple	Multiple	No	not provided	Uncertain significance	GRCh38.p12	NC_000001.11	1			789139	1229930			Remapped	1
nstd102	nssv15156678	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			47851	1229930			Remapped	1.05783
nstd102	nssv15156679	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			47851	6599812			Remapped	0.99092
nstd102	nssv15156680	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			80386	91719			Remapped	1
nstd102	nssv15156681	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			82154	912603			Remapped	1.08438
nstd102	nssv15156682	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			82154	1354455			Remapped	1.05351
nstd102	nssv15156683	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			624954	634798			Remapped	1
nstd102	nssv15156684	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			773384	903723			Remapped	1
nstd102	nssv15156967	copy number gain	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			47851	248934250			Remapped	0.99882
nstd102	nssv15156968	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			82154	932255			Remapped	1.08227
nstd102	nssv15156969	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	7876212			Remapped	0.99235
nstd102	nssv15156970	copy number gain	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	248924793			Remapped	0.99882
nstd102	nssv15169562	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			47851	778658			Remapped	1.097
nstd102	nssv15169563	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			790357	903723			Remapped	1
nstd102	nssv15169564	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			790357	1099368			Remapped	1
nstd102	nssv15169565	copy number loss	1	Multiple	Multiple	No	not provided	Likely benign	GRCh38.p12	NC_000001.11	1			791657	1431450			Remapped	1
nstd102	nssv15170259	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			817186	930314			Remapped	1
nstd102	nssv15170260	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			901304	953279			Remapped	1
nstd102	nssv15170261	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			903723	942451			Remapped	1
nstd102	nssv15171013	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			47851	91538			Remapped	1
nstd102	nssv15171014	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			791018	926428			Remapped	1
nstd102	nssv15171015	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			791101	818161			Remapped	1
nstd102	nssv15171016	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			791101	945526			Remapped	1
nstd102	nssv15171017	copy number gain	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			817186	1027511			Remapped	1
nstd102	nssv15171018	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			898818	1127258			Remapped	1
nstd102	nssv15171019	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			903723	934930			Remapped	1
nstd102	nssv15171020	copy number loss	1	Multiple	Multiple	No	not provided	Benign	GRCh38.p12	NC_000001.11	1			903723	946538			Remapped	1
nstd102	nssv15605942	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			888584	6768303			Remapped	0.97924
nstd102	nssv15605943	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			633328	3746385			Remapped	1.00608
nstd102	nssv15605944	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			633328	2636393			Remapped	1.00197
nstd102	nssv15605988	copy number loss	1	Multiple	Multiple	No	not provided	Likely pathogenic	GRCh38.p12	NC_000001.11	1			633328	1348399			Remapped	1
nstd102	nssv15755176	deletion	1	Multiple	Multiple	No	Neurodevelopmental Disorders;Neurodevelopmental disorder	Pathogenic	GRCh38.p12	NC_000001.11	1		618995			9719784		Remapped	0.98649
nstd102	nssv15755708	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	7577000			Remapped	0.99205
nstd102	nssv15755716	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	11724061			Remapped	0.99487
nstd102	nssv15774998	copy number gain	1	Multiple	Multiple	No	not provided	Uncertain significance	GRCh38.p12	NC_000001.11	1			792351	2176419			Remapped	1.00286
nstd102	nssv16207696	copy number loss	1	Multiple	Multiple	No	not provided	Uncertain significance	GRCh38.p12	NC_000001.11	1			914086	1718493			Remapped	1.00492
nstd102	nssv16207697	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	5942895			Remapped	0.97581
nstd102	nssv16207698	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	5565506			Remapped	0.9739
nstd102	nssv16207699	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	4768999			Remapped	0.96867
nstd102	nssv16208658	copy number gain	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1			82154	3432949			Remapped	1.02554
nstd102	nssv16208786	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	7726485			Remapped	0.98203
nstd102	nssv16216885	copy number loss	1	Multiple	Multiple	No	HAREL-YOON SYNDROME; HAYOS;Harel-Yoon syndrome	Likely pathogenic	GRCh38.p12	NC_000001.11	1			826700	7249626			Remapped	0.98096
nstd102	nssv16254638	copy number loss	1	Multiple	Multiple	No	not provided	Likely pathogenic	GRCh38.p12	NC_000001.11	1			914086	1875220			Remapped	1.00412
nstd102	nssv16254639	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2101817			Remapped	1.00333
nstd102	nssv16254640	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2045349			Remapped	1.0035
nstd102	nssv16255736	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			10001	5532775			Remapped	0.98747
nstd102	nssv16297040	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1		818082			1785896		Remapped	1.00409
nstd102	nssv17955960	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1		818172			3974514		Remapped	0.962
nstd102	nssv17956068	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	2690103			Remapped	1.00222
nstd102	nssv17956141	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	17198570			Remapped	0.97655
nstd102	nssv17976639	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			898721	7870545			Remapped	0.98243
nstd102	nssv17976900	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	5565506			Remapped	0.9739
nstd102	nssv17976901	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	4122946			Remapped	0.9626
nstd102	nssv17976902	copy number loss	1	Multiple	Multiple	No	CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL;Chromosome 1p36 deletion syndrome, proximal	Pathogenic	GRCh38.p12	NC_000001.11	1			914086	10198746			Remapped	0.98675
nstd102	nssv17977098	copy number loss	1	Multiple	Multiple	No	See cases	Pathogenic	GRCh38.p12	NC_000001.11	1	914086					2587169	Remapped	1.00236
nstd102	nssv18329595	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914087	3055871			Remapped	1.00886
nstd102	nssv18329701	copy number gain	1	Multiple	Multiple	No	not provided	Uncertain significance	GRCh38.p12	NC_000001.11	1			914087	1238985			Remapped	1
nstd102	nssv18330219	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			914087	12388897			Remapped	0.98925
nstd102	nssv18792863	copy number loss	1	Multiple	Multiple	No	1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome	Pathogenic	GRCh38.p12	NC_000001.11	1			10001			2649537	Remapped	1.02269
nstd102	nssv18830721	copy number loss	1	Multiple	Multiple	No	not provided	Pathogenic	GRCh38.p12	NC_000001.11	1			601397	5952836			Remapped	0.97723

dbVar

Database of genomic structural variation

Please click here to confirm download.