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dbVar

Database of genomic structural variation

nsv3190695

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:89,044

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: 620 SVs from 69 studies. See in: genome view

Submitted genomic180,895,149-180,984,192

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3190695	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	180,895,149	180,984,192
nsv3190695	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14273787	deletion	HG00512	Optical mapping	Optical mapping	Homozygous	13,827
nssv14273788	deletion	SAMN00006466	Optical mapping	Optical mapping	Homozygous	14,137
nssv14273789	deletion	HG00514	Optical mapping	Optical mapping	Homozygous	39,861
nssv14273790	deletion	SAMN00006579	Optical mapping	Optical mapping	Homozygous	13,953
nssv14273791	deletion	SAMN00006580	Optical mapping	Optical mapping	Homozygous	14,212
nssv14273792	deletion	SAMN00006581	Optical mapping	Optical mapping	Homozygous	41,185
nssv14273793	deletion	SAMN00001694	Optical mapping	Optical mapping	Homozygous	16,419
nssv14273794	deletion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732
nssv14273795	deletion	SAMN00001696	Optical mapping	Optical mapping	Homozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14273787	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273788	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273789	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273790	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273791	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273792	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273793	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273794	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273795	Submitted genomic		NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del	GRCh38 (hg38)		NC_000004.12	Chr4	180,895,149	180,984,192
nssv14273787	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273788	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273789	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273790	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273791	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273792	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273793	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273794	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345
nssv14273795	Remapped	Perfect	NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	181,816,302	181,905,345

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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