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dbVar

Database of genomic structural variation

nsv5947279

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:67

Publication(s):Almarri et al. 2020

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

Submitted genomic29,300,559-29,300,625

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5947279	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	29,300,559	29,300,625
nsv5947279	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	29,874,696	29,874,762

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17380147	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17380147	Submitted genomic		NC_000013.11:g.293 00559_29300625del	GRCh38 (hg38)		NC_000013.11	Chr13	29,300,559	29,300,625
nssv17380147	Remapped	Perfect	NC_000013.10:g.298 74696_29874762del	GRCh37.p13	First Pass	NC_000013.10	Chr13	29,874,696	29,874,762

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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