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dbVar

Database of genomic structural variation

nsv3334278

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:11,479

Publication(s):Audano 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: 274 SVs from 56 studies. See in: genome view

Submitted genomic90,065,915-90,077,393

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3334278	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	90,065,915	90,077,393
nsv3334278	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	89,799,083	89,810,561

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14519646	deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14521389	deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14525076	deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14529505	deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14519646	Submitted genomic		NC_000011.10:g.900 65915_90077393del	GRCh38 (hg38)		NC_000011.10	Chr11	90,065,915	90,077,393
nssv14521389	Submitted genomic		NC_000011.10:g.900 65915_90077393del	GRCh38 (hg38)		NC_000011.10	Chr11	90,065,915	90,077,393
nssv14525076	Submitted genomic		NC_000011.10:g.900 65915_90077393del	GRCh38 (hg38)		NC_000011.10	Chr11	90,065,915	90,077,393
nssv14529505	Submitted genomic		NC_000011.10:g.900 65915_90077393del	GRCh38 (hg38)		NC_000011.10	Chr11	90,065,915	90,077,393
nssv14519646	Remapped	Perfect	NC_000011.9:g.8979 9083_89810561delNC _000011.9:g.897990 83_89810561del	GRCh37.p13	First Pass	NC_000011.9	Chr11	89,799,083	89,810,561
nssv14521389	Remapped	Perfect	NC_000011.9:g.8979 9083_89810561delNC _000011.9:g.897990 83_89810561del	GRCh37.p13	First Pass	NC_000011.9	Chr11	89,799,083	89,810,561
nssv14525076	Remapped	Perfect	NC_000011.9:g.8979 9083_89810561delNC _000011.9:g.897990 83_89810561del	GRCh37.p13	First Pass	NC_000011.9	Chr11	89,799,083	89,810,561
nssv14529505	Remapped	Perfect	NC_000011.9:g.8979 9083_89810561delNC _000011.9:g.897990 83_89810561del	GRCh37.p13	First Pass	NC_000011.9	Chr11	89,799,083	89,810,561

Showing 8 of 12

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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