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dbVar

Database of genomic structural variation

nsv5645112

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: 91 SVs from 28 studies. See in: genome view

Submitted genomic50,352,003-50,352,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5645112	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,352,003	50,352,003
nsv5645112	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	50,745,786	50,745,786

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17097285	insertion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17097285	Submitted genomic		NC_000012.12:g.503 52003_50352004ins1 09	GRCh38 (hg38)		NC_000012.12	Chr12	50,352,003	50,352,003
nssv17097285	Remapped	Perfect	NC_000012.11:g.507 45786_50745787ins1 09	GRCh37.p13	First Pass	NC_000012.11	Chr12	50,745,786	50,745,786

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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