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dbVar

Database of genomic structural variation

nsv3418730

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 133 SVs from 29 studies. See in: genome view

Submitted genomic126,801,539-126,801,539

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3418730	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	126,801,539	126,801,539
nsv3418730	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	126,441,593	126,441,593

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14762940	insertion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14763171	insertion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14770228	insertion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14771251	insertion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14762940	Submitted genomic		NC_000007.14:g.126 801539_126801540in s73	GRCh38 (hg38)		NC_000007.14	Chr7	126,801,539	126,801,539
nssv14763171	Submitted genomic		NC_000007.14:g.126 801539_126801540in s73	GRCh38 (hg38)		NC_000007.14	Chr7	126,801,539	126,801,539
nssv14770228	Submitted genomic		NC_000007.14:g.126 801539_126801540in s73	GRCh38 (hg38)		NC_000007.14	Chr7	126,801,539	126,801,539
nssv14771251	Submitted genomic		NC_000007.14:g.126 801539_126801540in s73	GRCh38 (hg38)		NC_000007.14	Chr7	126,801,539	126,801,539
nssv14762940	Remapped	Perfect	NC_000007.13:g.126 441593_126441594in s73NC_000007.13:g. 126441593_12644159 4ins73	GRCh37.p13	First Pass	NC_000007.13	Chr7	126,441,593	126,441,593
nssv14763171	Remapped	Perfect	NC_000007.13:g.126 441593_126441594in s73NC_000007.13:g. 126441593_12644159 4ins73	GRCh37.p13	First Pass	NC_000007.13	Chr7	126,441,593	126,441,593
nssv14770228	Remapped	Perfect	NC_000007.13:g.126 441593_126441594in s73NC_000007.13:g. 126441593_12644159 4ins73	GRCh37.p13	First Pass	NC_000007.13	Chr7	126,441,593	126,441,593
nssv14771251	Remapped	Perfect	NC_000007.13:g.126 441593_126441594in s73NC_000007.13:g. 126441593_12644159 4ins73	GRCh37.p13	First Pass	NC_000007.13	Chr7	126,441,593	126,441,593

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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