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dbVar

Database of genomic structural variation

nsv5943347

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:269

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

Submitted genomic82,053,771-82,054,039

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943347	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	82,053,771	82,054,039
nsv5943347	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	80,011,647	80,011,915

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17385086	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17385086	Submitted genomic		NC_000017.11:g.820 53771_82054039del	GRCh38 (hg38)		NC_000017.11	Chr17	82,053,771	82,054,039
nssv17385086	Remapped	Perfect	NC_000017.10:g.800 11647_80011915del	GRCh37.p13	First Pass	NC_000017.10	Chr17	80,011,647	80,011,915

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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