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dbVar

Database of genomic structural variation

nsv3565204

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
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: 238 SVs from 35 studies. See in: genome view

Submitted genomic130,424,980-130,425,010

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565204	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	130,424,995 (-15, +15)	130,424,995 (-15, +15)
nsv3565204	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	131,437,241 (-15, +15)	131,437,241 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14343927	sva insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14343927	Submitted genomic		NC_000008.11:g.(13 0424980_130425010) _(130424980_130425 010)ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	130,424,995 (-15, +15)	130,424,995 (-15, +15)
nssv14343927	Remapped	Perfect	NC_000008.10:g.(13 1437226_131437256) _(131437226_131437 256)ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	131,437,241 (-15, +15)	131,437,241 (-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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