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dbVar

Database of genomic structural variation

nsv5672477

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: 496 SVs from 41 studies. See in: genome view

Submitted genomic45,537,564-45,537,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5672477	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	45,537,564	45,537,564
nsv5672477	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	46,957,478	46,957,478

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17122914	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
nssv17122914	Submitted genomic		NC_000021.9:g.4553 7564_45537565ins13 0	GRCh38 (hg38)		NC_000021.9	Chr21	45,537,564	45,537,564
nssv17122914	Remapped	Perfect	NC_000021.8:g.4695 7478_46957479ins13 0	GRCh37.p13	First Pass	NC_000021.8	Chr21	46,957,478	46,957,478

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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