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dbVar

Database of genomic structural variation

nsv5649534

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: 125 SVs from 36 studies. See in: genome view

Submitted genomic45,781,372-45,781,372

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5649534	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	45,781,372	45,781,372
nsv5649534	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	46,175,155	46,175,155

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17093208	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
nssv17093208	Submitted genomic		NC_000012.12:g.457 81372_45781373ins1 009	GRCh38 (hg38)		NC_000012.12	Chr12	45,781,372	45,781,372
nssv17093208	Remapped	Perfect	NC_000012.11:g.461 75155_46175156ins1 009	GRCh37.p13	First Pass	NC_000012.11	Chr12	46,175,155	46,175,155

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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