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dbVar

Database of genomic structural variation

nsv5654007

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: 90 SVs from 26 studies. See in: genome view

Submitted genomic108,795,273-108,795,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5654007	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	108,795,273	108,795,273
nsv5654007	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	109,189,049	109,189,049

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17076753	insertion	NA12329	Sequencing	Sequence alignment	1,517

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17076753	Submitted genomic		NC_000012.12:g.108 795273_108795274in s550	GRCh38 (hg38)		NC_000012.12	Chr12	108,795,273	108,795,273
nssv17076753	Remapped	Perfect	NC_000012.11:g.109 189049_109189050in s550	GRCh37.p13	First Pass	NC_000012.11	Chr12	109,189,049	109,189,049

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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