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dbVar

Database of genomic structural variation

nsv3218194

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Optical mapping
Submitted on:GRCh38 (hg38)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:94,618

Publication(s):Chaisson 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: 647 SVs from 81 studies. See in: genome view

Submitted genomic96,824,384-96,919,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3218194	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	96,824,384	96,919,001
nsv3218194	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14277577	deletion	HG00512	Optical mapping	Optical mapping	Homozygous	13,827
nssv14277578	deletion	SAMN00006466	Optical mapping	Optical mapping	Homozygous	14,137
nssv14277579	deletion	HG00514	Optical mapping	Optical mapping	Homozygous	39,861
nssv14277580	deletion	SAMN00006579	Optical mapping	Optical mapping	Homozygous	13,953
nssv14277581	deletion	SAMN00006580	Optical mapping	Optical mapping	Heterozygous	14,212
nssv14277582	deletion	SAMN00006581	Optical mapping	Optical mapping	Heterozygous	41,185
nssv14277583	deletion	SAMN00001694	Optical mapping	Optical mapping	Heterozygous	16,419
nssv14277584	deletion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732
nssv14277585	deletion	SAMN00001696	Optical mapping	Optical mapping	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14277577	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277578	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277579	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277580	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277581	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277582	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277583	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277584	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277585	Submitted genomic		NC_000007.14:g.(96 824384_?)_(?_96919 001)del	GRCh38 (hg38)		NC_000007.14	Chr7	96,824,384	96,919,001
nssv14277577	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277578	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277579	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277580	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277581	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277582	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277583	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277584	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313
nssv14277585	Remapped	Perfect	NC_000007.13:g.(96 453696_?)_(?_96548 313)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	96,453,696	96,548,313

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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