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dbVar

Database of genomic structural variation

nsv5881720

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:851

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: 121 SVs from 25 studies. See in: genome view

Submitted genomic40,245,445-40,246,295

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5881720	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	40,245,445	40,246,295
nsv5881720	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	40,711,117	40,711,967

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17370016	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17370016	Submitted genomic		NC_000001.11:g.402 45445_40246295del	GRCh38 (hg38)		NC_000001.11	Chr1	40,245,445	40,246,295
nssv17370016	Remapped	Perfect	NC_000001.10:g.407 11117_40711967del	GRCh37.p13	First Pass	NC_000001.10	Chr1	40,711,117	40,711,967

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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