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dbVar

Database of genomic structural variation

nsv5947441

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:330

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 30 studies. See in: genome view

Submitted genomic30,205,601-30,205,930

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5947441	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	30,205,601	30,205,930
nsv5947441	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	30,779,738	30,780,067

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17370096	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17370096	Submitted genomic		NC_000013.11:g.302 05601_30205930del	GRCh38 (hg38)		NC_000013.11	Chr13	30,205,601	30,205,930
nssv17370096	Remapped	Perfect	NC_000013.10:g.307 79738_30780067del	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,779,738	30,780,067

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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