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dbVar

Database of genomic structural variation

nsv3399661

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:64,300

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: 338 SVs from 59 studies. See in: genome view

Submitted genomic38,923,401-38,987,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3399661	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nsv3399661	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14776630	duplication	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14777702	duplication	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14782223	duplication	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14788537	duplication	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14788808	duplication	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14789850	duplication	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14776630	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14777702	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14782223	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14788537	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14788808	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14789850	Submitted genomic		NC_000009.12:g.(38 923401_38923601)_( 38987700_38987900) dup	GRCh38 (hg38)		NC_000009.12	Chr9	38,923,501 (-100, +100)	38,987,800 (-100, +100)
nssv14776630	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)
nssv14777702	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)
nssv14782223	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)
nssv14788537	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)
nssv14788808	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)
nssv14789850	Remapped	Perfect	NC_000009.11:g.(38 923398_38923598)_( 38987697_38987897) dupNC_000009.11:g. (38923398_38923598 )_(38987697_389878 97)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	38,923,498 (-100, +100)	38,987,797 (-100, +100)

Showing 12 of 18

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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