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dbVar

Database of genomic structural variation

nsv3221159

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:117,947

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: 503 SVs from 63 studies. See in: genome view

Submitted genomic68,046,399-68,164,345

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3221159	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	68,046,399	68,164,345
nsv3221159	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14258779	deletion	HG00512	Optical mapping	Optical mapping	Homozygous	13,827
nssv14258780	deletion	SAMN00006466	Optical mapping	Optical mapping	Homozygous	14,137
nssv14258781	deletion	HG00514	Optical mapping	Optical mapping	Homozygous	39,861
nssv14258782	deletion	SAMN00006579	Optical mapping	Optical mapping	Homozygous	13,953
nssv14258783	deletion	SAMN00006580	Optical mapping	Optical mapping	Heterozygous	14,212
nssv14258784	deletion	SAMN00006581	Optical mapping	Optical mapping	Homozygous	41,185
nssv14258785	deletion	SAMN00001694	Optical mapping	Optical mapping	Homozygous	16,419
nssv14258786	deletion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732
nssv14258787	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
nssv14258779	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258780	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258781	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258782	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258783	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258784	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258785	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258786	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258787	Submitted genomic		NC_000015.10:g.(68 046399_?)_(?_68164 345)del	GRCh38 (hg38)		NC_000015.10	Chr15	68,046,399	68,164,345
nssv14258779	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258780	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258781	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258782	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258783	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258784	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258785	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258786	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683
nssv14258787	Remapped	Perfect	NC_000015.9:g.(683 38737_?)_(?_684566 83)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,338,737	68,456,683

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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