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dbVar

Database of genomic structural variation

nsv3199093

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:127,429

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: 234 SVs from 37 studies. See in: genome view

Submitted genomic120,189,415-120,321,883

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3199093	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nsv3199093	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14291147	duplication	HG00512	Sequencing	Sequence alignment	6	13,827
nssv14291148	duplication	SAMN00006466	Sequencing	Sequence alignment	8	14,137
nssv14291149	duplication	HG00514	Sequencing	Sequence alignment	7	39,861
nssv14291150	duplication	SAMN00006579	Sequencing	Sequence alignment	7	13,953
nssv14291151	duplication	SAMN00006580	Sequencing	Sequence alignment	7	14,212
nssv14291152	duplication	SAMN00006581	Sequencing	Sequence alignment	8	41,185
nssv14291153	duplication	SAMN00001694	Sequencing	Sequence alignment	8	16,419
nssv14291154	duplication	SAMN00001695	Sequencing	Sequence alignment	7	15,732
nssv14291155	duplication	SAMN00001696	Sequencing	Sequence alignment	8	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14291147	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291148	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291149	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291150	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291151	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291152	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291153	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291154	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291155	Submitted genomic		NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup	GRCh38 (hg38)		NC_000001.11	Chr1	120,191,935 (-2520, +2520)	120,319,363 (-2520, +2520)
nssv14291147	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291148	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291149	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291150	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291151	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291152	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291153	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291154	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)
nssv14291155	Remapped	Perfect	NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup	GRCh37.p13	First Pass	NW_003871056.3	Chr1\|NW_00 3871056.3	263,509 (-2520, +2520)	390,937 (-2520, +2520)

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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