nsv3116050

Organism: Homo sapiens

Study:nstd145 (Lu et al. 2017)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:GRCh37 (hg19)

Variant Calls:42
Validation:Not tested
Clinical Assertions: No
Region Size:58,017

Publication(s):Lu et al. 2017

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: 620 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):41,141,060-41,199,076

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3116050	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nsv3116050	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	41,610,263	41,668,279

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14094007	deletion	sample4	Oligo aCGH	Probe signal intensity	66
nssv14094016	deletion	sample7	Oligo aCGH	Probe signal intensity	91
nssv14094021	deletion	sample9	Oligo aCGH	Probe signal intensity	78
nssv14094023	deletion	sample11	Oligo aCGH	Probe signal intensity	90
nssv14094087	deletion	sample35	Oligo aCGH	Probe signal intensity	54
nssv14094094	deletion	sample42	Oligo aCGH	Probe signal intensity	82
nssv14094099	deletion	sample44	Oligo aCGH	Probe signal intensity	90
nssv14094104	deletion	sample45	Oligo aCGH	Probe signal intensity	79
nssv14094120	deletion	sample51	Oligo aCGH	Probe signal intensity	81
nssv14094126	deletion	sample52	Oligo aCGH	Probe signal intensity	70
nssv14094145	deletion	sample61	Oligo aCGH	Probe signal intensity	81
nssv14094169	deletion	sample71	Oligo aCGH	Probe signal intensity	91
nssv14094197	deletion	sample80	Oligo aCGH	Probe signal intensity	80
nssv14094221	deletion	sample89	Oligo aCGH	Probe signal intensity	102
nssv14094223	deletion	sample91	Oligo aCGH	Probe signal intensity	90
nssv14094266	deletion	sample107	Oligo aCGH	Probe signal intensity	63
nssv14094311	deletion	sample122	Oligo aCGH	Probe signal intensity	97
nssv14095017	deletion	sample312	Oligo aCGH	Probe signal intensity	89
nssv14095065	deletion	sample335	Oligo aCGH	Probe signal intensity	67
nssv14095083	deletion	sample345	Oligo aCGH	Probe signal intensity	83
nssv14095138	deletion	sample368	Oligo aCGH	Probe signal intensity	80
nssv14095154	deletion	sample373	Oligo aCGH	Probe signal intensity	100
nssv14095158	deletion	sample375	Oligo aCGH	Probe signal intensity	92
nssv14095177	deletion	sample382	Oligo aCGH	Probe signal intensity	83
nssv14095181	deletion	sample383	Oligo aCGH	Probe signal intensity	82
nssv14095231	deletion	sample410	Oligo aCGH	Probe signal intensity	83
nssv14095263	deletion	sample423	Oligo aCGH	Probe signal intensity	63
nssv14095323	deletion	sample127	Oligo aCGH	Probe signal intensity	60
nssv14095343	deletion	sample135	Oligo aCGH	Probe signal intensity	51
nssv14095378	deletion	sample146	Oligo aCGH	Probe signal intensity	105
nssv14095388	deletion	sample150	Oligo aCGH	Probe signal intensity	83
nssv14095434	deletion	sample167	Oligo aCGH	Probe signal intensity	83
nssv14095476	deletion	sample182	Oligo aCGH	Probe signal intensity	87
nssv14095519	deletion	sample203	Oligo aCGH	Probe signal intensity	88
nssv14095527	deletion	sample206	Oligo aCGH	Probe signal intensity	96
nssv14095540	deletion	sample210	Oligo aCGH	Probe signal intensity	58
nssv14095563	deletion	sample220	Oligo aCGH	Probe signal intensity	73
nssv14095579	deletion	sample227	Oligo aCGH	Probe signal intensity	75
nssv14095608	deletion	sample239	Oligo aCGH	Probe signal intensity	46
nssv14096255	deletion	sample246	Oligo aCGH	Probe signal intensity	86
nssv14096283	deletion	sample262	Oligo aCGH	Probe signal intensity	74
nssv14096314	deletion	sample274	Oligo aCGH	Probe signal intensity	73

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14094007	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094016	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094021	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094023	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094087	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094094	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094099	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094104	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094120	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094126	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094145	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094169	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094197	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094221	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094223	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094266	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094311	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095017	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095065	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095083	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095138	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095154	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095158	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095177	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095181	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095231	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095263	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095323	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095343	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095378	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095388	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095434	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095476	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095519	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095527	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095540	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095563	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095579	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14095608	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14096255	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14096283	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14096314	Remapped	Perfect	NC_000014.9:g.(?_4 1141060)_(41199076 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,141,060	41,199,076
nssv14094007	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094016	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094021	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094023	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094087	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094094	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094099	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094104	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094120	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094126	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094145	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094169	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094197	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094221	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094223	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094266	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14094311	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095017	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095065	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095083	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095138	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095154	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095158	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095177	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095181	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095231	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095263	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095323	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095343	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095378	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095388	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095434	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095476	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095519	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095527	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095540	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095563	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095579	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14095608	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14096255	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14096283	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279
nssv14096314	Submitted genomic		NC_000014.8:g.(?_4 1610263)_(41668279 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	41,610,263	41,668,279

dbVar

Database of genomic structural variation

nsv3116050

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