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dbVar

Database of genomic structural variation

nsv5644546

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):Ebert et al. 2021

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: 168 SVs from 31 studies. See in: genome view

Submitted genomic8,608,228-8,608,228

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5644546	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	8,608,228	8,608,228
nsv5644546	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	8,760,824	8,760,824

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17089281	insertion	SAMN00006466	Sequencing	Sequence alignment	4,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17089281	Submitted genomic		NC_000012.12:g.860 8228_8608229ins52	GRCh38 (hg38)		NC_000012.12	Chr12	8,608,228	8,608,228
nssv17089281	Remapped	Perfect	NC_000012.11:g.876 0824_8760825ins52	GRCh37.p13	First Pass	NC_000012.11	Chr12	8,760,824	8,760,824

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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