nsv3317469

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:35
Validation:Not tested
Clinical Assertions: No
Region Size:25,168

Publication(s):Frenkel et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 725 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):65,203,691-65,228,858

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nsv3317469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	65,189,366	65,214,533

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467916	copy number loss	M2116	SNP array	SNP genotyping analysis	21
nssv14468224	copy number loss	M2135	SNP array	SNP genotyping analysis	17
nssv14468445	copy number loss	M2155	SNP array	SNP genotyping analysis	15
nssv14468513	copy number loss	M2160	SNP array	SNP genotyping analysis	22
nssv14468818	copy number loss	M2182	SNP array	SNP genotyping analysis	32
nssv14468840	copy number loss	M2185	SNP array	SNP genotyping analysis	20
nssv14468994	copy number loss	M2194	SNP array	SNP genotyping analysis	21
nssv14469110	copy number loss	M2201	SNP array	SNP genotyping analysis	16
nssv14469316	copy number loss	M2224	SNP array	SNP genotyping analysis	16
nssv14469363	copy number loss	M2228	SNP array	SNP genotyping analysis	21
nssv14469403	copy number loss	M2233	SNP array	SNP genotyping analysis	9
nssv14469471	copy number loss	M2239	SNP array	SNP genotyping analysis	23
nssv14469740	copy number loss	M2262	SNP array	SNP genotyping analysis	19
nssv14469783	copy number loss	M2268	SNP array	SNP genotyping analysis	13
nssv14470016	copy number loss	M2297	SNP array	SNP genotyping analysis	19
nssv14470116	copy number loss	M2309	SNP array	SNP genotyping analysis	18
nssv14470332	copy number loss	M2331	SNP array	SNP genotyping analysis	21
nssv14470393	copy number loss	M2337	SNP array	SNP genotyping analysis	36
nssv14470485	copy number loss	M2350	SNP array	SNP genotyping analysis	18
nssv14470580	copy number loss	M2360	SNP array	SNP genotyping analysis	9
nssv14470703	copy number loss	M2370	SNP array	SNP genotyping analysis	18
nssv14470819	copy number loss	M2383	SNP array	SNP genotyping analysis	23
nssv14470958	copy number loss	M2395	SNP array	SNP genotyping analysis	17
nssv14471044	copy number loss	M2402	SNP array	SNP genotyping analysis	15
nssv14471060	copy number loss	M2403	SNP array	SNP genotyping analysis	14
nssv14471098	copy number loss	M2406	SNP array	SNP genotyping analysis	18
nssv14471214	copy number loss	M2422	SNP array	SNP genotyping analysis	19
nssv14471234	copy number loss	M2423	SNP array	SNP genotyping analysis	15
nssv14471386	copy number loss	M2437	SNP array	SNP genotyping analysis	23
nssv14471489	copy number loss	M2456	SNP array	SNP genotyping analysis	29
nssv14471608	copy number loss	M2465	SNP array	SNP genotyping analysis	20
nssv14471669	copy number loss	M2472	SNP array	SNP genotyping analysis	12
nssv14471709	copy number loss	M2482	SNP array	SNP genotyping analysis	21
nssv14471848	copy number loss	M2497	SNP array	SNP genotyping analysis	16
nssv14471968	copy number loss	M2512	SNP array	SNP genotyping analysis	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467916	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468224	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468445	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468513	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468818	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468840	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14468994	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469110	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469316	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469363	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469403	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469471	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469740	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14469783	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470016	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470116	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470332	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470393	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470485	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470580	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470703	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470819	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14470958	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471044	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471060	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471098	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471214	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471234	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471386	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471489	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471608	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471669	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471709	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471848	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14471968	Remapped	Perfect	NC_000003.12:g.(?_ 65203691)_(6522885 8_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	65,203,691	65,228,858
nssv14467916	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468224	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468445	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468513	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468818	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468840	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14468994	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469110	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469316	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469363	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469403	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469471	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469740	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14469783	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470016	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470116	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470332	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470393	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470485	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470580	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470703	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470819	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14470958	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471044	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471060	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471098	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471214	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471234	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471386	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471489	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471608	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471669	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471709	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471848	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533
nssv14471968	Submitted genomic		NC_000003.11:g.(?_ 65189366)_(6521453 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	65,189,366	65,214,533

dbVar

Database of genomic structural variation

nsv3317469

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant