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dbVar

Database of genomic structural variation

nsv3418749

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: 446 SVs from 55 studies. See in: genome view

Submitted genomic158,336,464-158,336,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3418749	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	158,336,464	158,336,464
nsv3418749	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	158,129,156	158,129,156

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14755087	insertion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14760278	insertion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14764367	insertion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14768956	insertion	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
nssv14755087	Submitted genomic		NC_000007.14:g.158 336464_158336465in s108	GRCh38 (hg38)		NC_000007.14	Chr7	158,336,464	158,336,464
nssv14760278	Submitted genomic		NC_000007.14:g.158 336464_158336465in s108	GRCh38 (hg38)		NC_000007.14	Chr7	158,336,464	158,336,464
nssv14764367	Submitted genomic		NC_000007.14:g.158 336464_158336465in s108	GRCh38 (hg38)		NC_000007.14	Chr7	158,336,464	158,336,464
nssv14768956	Submitted genomic		NC_000007.14:g.158 336464_158336465in s108	GRCh38 (hg38)		NC_000007.14	Chr7	158,336,464	158,336,464
nssv14755087	Remapped	Perfect	NC_000007.13:g.158 129156_158129157in s108NC_000007.13:g .158129156_1581291 57ins108	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,129,156	158,129,156
nssv14760278	Remapped	Perfect	NC_000007.13:g.158 129156_158129157in s108NC_000007.13:g .158129156_1581291 57ins108	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,129,156	158,129,156
nssv14764367	Remapped	Perfect	NC_000007.13:g.158 129156_158129157in s108NC_000007.13:g .158129156_1581291 57ins108	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,129,156	158,129,156
nssv14768956	Remapped	Perfect	NC_000007.13:g.158 129156_158129157in s108NC_000007.13:g .158129156_1581291 57ins108	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,129,156	158,129,156

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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