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dbVar

Database of genomic structural variation

nsv3412371

Organism: Homo sapiens

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

Variant Calls:8
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: 226 SVs from 32 studies. See in: genome view

Submitted genomic33,130,551-33,130,551

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3412371	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	33,130,551	33,130,551
nsv3412371	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14772927	sva insertion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14777615	sva insertion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14781419	sva insertion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14783573	sva insertion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14784120	sva insertion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14785044	sva insertion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14788517	sva insertion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14791635	sva insertion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14772927	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14777615	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14781419	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14783573	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14784120	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14785044	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14788517	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14791635	Submitted genomic		NC_000009.12:g.331 30551_33130552ins2 053	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,551	33,130,551
nssv14772927	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14777615	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14781419	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14783573	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14784120	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14785044	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14788517	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549
nssv14791635	Remapped	Perfect	NC_000009.11:g.331 30549_33130550ins2 053NC_000009.11:g. 33130549_33130550i ns2053	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,549	33,130,549

Showing 16 of 24

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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