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dbVar

Database of genomic structural variation

nsv3565695

Organism: Homo sapiens

Study:nstd152 (Chaisson 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

Description:Insertion of a SVA mobile element relative to the reference
Publication(s):Chaisson 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: 248 SVs from 44 studies. See in: genome view

Submitted genomic33,130,546-33,130,576

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565695	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nsv3565695	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14345679	sva insertion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14345680	sva insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14345681	sva insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14345682	sva insertion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14345683	sva insertion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14345684	sva insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14345685	sva insertion	SAMN00001695	Sequencing	Sequence alignment	Heterozygous	15,732
nssv14345686	sva insertion	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14345679	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345680	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345681	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345682	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345683	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345684	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345685	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345686	Submitted genomic		NC_000009.12:g.(33 130546_33130576)_( 33130546_33130576) ins1267	GRCh38 (hg38)		NC_000009.12	Chr9	33,130,561 (-15, +15)	33,130,561 (-15, +15)
nssv14345679	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345680	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345681	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345682	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345683	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345684	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345685	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)
nssv14345686	Remapped	Perfect	NC_000009.11:g.(33 130544_33130574)_( 33130544_33130574) ins1267	GRCh37.p13	First Pass	NC_000009.11	Chr9	33,130,559 (-15, +15)	33,130,559 (-15, +15)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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