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dbVar

Database of genomic structural variation

nsv3318303

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:8,883

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: 362 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):15,920,498-15,929,380

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318303	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nsv3318303	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	15,778,007	15,786,889

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468470	copy number loss	M2157	SNP array	SNP genotyping analysis	20
nssv14468736	copy number loss	M2177	SNP array	SNP genotyping analysis	15
nssv14469295	copy number loss	M2221	SNP array	SNP genotyping analysis	11
nssv14470038	copy number loss	M2299	SNP array	SNP genotyping analysis	17
nssv14470436	copy number loss	M2340	SNP array	SNP genotyping analysis	17
nssv14470458	copy number loss	M2341	SNP array	SNP genotyping analysis	23
nssv14470930	copy number loss	M2393	SNP array	SNP genotyping analysis	18
nssv14471763	copy number loss	M2488	SNP array	SNP genotyping analysis	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468470	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14468736	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14469295	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14470038	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14470436	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14470458	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14470930	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14471763	Remapped	Perfect	NC_000008.11:g.(?_ 15920498)_(1592938 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	15,920,498	15,929,380
nssv14468470	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14468736	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14469295	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14470038	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14470436	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14470458	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14470930	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889
nssv14471763	Submitted genomic		NC_000008.10:g.(?_ 15778007)_(1578688 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	15,778,007	15,786,889

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

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