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dbVar

Database of genomic structural variation

nsv5614301

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: 128 SVs from 29 studies. See in: genome view

Submitted genomic55,873,983-55,873,983

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5614301	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	55,873,983	55,873,983
nsv5614301	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	56,101,118	56,101,118

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17113345	insertion	SAMN00000485	Sequencing	Sequence alignment	1,404

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17113345	Submitted genomic		NC_000002.12:g.558 73983_55873984ins3 47	GRCh38 (hg38)		NC_000002.12	Chr2	55,873,983	55,873,983
nssv17113345	Remapped	Perfect	NC_000002.11:g.561 01118_56101119ins3 47	GRCh37.p13	First Pass	NC_000002.11	Chr2	56,101,118	56,101,118

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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