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dbVar

Database of genomic structural variation

nsv3564591

Organism: Homo sapiens

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

Variant Calls:3
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: 111 SVs from 24 studies. See in: genome view

Submitted genomic44,146,453-44,146,483

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3564591	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	44,146,468 (-15, +15)	44,146,468 (-15, +15)
nsv3564591	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	44,114,205 (-15, +15)	44,114,205 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14327195	sva insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14327196	sva insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14327197	sva insertion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14327195	Submitted genomic		NC_000006.12:g.(44 146453_44146483)_( 44146453_44146483) ins868	GRCh38 (hg38)		NC_000006.12	Chr6	44,146,468 (-15, +15)	44,146,468 (-15, +15)
nssv14327196	Submitted genomic		NC_000006.12:g.(44 146453_44146483)_( 44146453_44146483) ins868	GRCh38 (hg38)		NC_000006.12	Chr6	44,146,468 (-15, +15)	44,146,468 (-15, +15)
nssv14327197	Submitted genomic		NC_000006.12:g.(44 146453_44146483)_( 44146453_44146483) ins868	GRCh38 (hg38)		NC_000006.12	Chr6	44,146,468 (-15, +15)	44,146,468 (-15, +15)
nssv14327195	Remapped	Perfect	NC_000006.11:g.(44 114190_44114220)_( 44114190_44114220) ins868	GRCh37.p13	First Pass	NC_000006.11	Chr6	44,114,205 (-15, +15)	44,114,205 (-15, +15)
nssv14327196	Remapped	Perfect	NC_000006.11:g.(44 114190_44114220)_( 44114190_44114220) ins868	GRCh37.p13	First Pass	NC_000006.11	Chr6	44,114,205 (-15, +15)	44,114,205 (-15, +15)
nssv14327197	Remapped	Perfect	NC_000006.11:g.(44 114190_44114220)_( 44114190_44114220) ins868	GRCh37.p13	First Pass	NC_000006.11	Chr6	44,114,205 (-15, +15)	44,114,205 (-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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