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dbVar

Database of genomic structural variation

nsv5952474

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:1,296

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: 309 SVs from 37 studies. See in: genome view

Submitted genomic23,367,571-23,368,866

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5952474	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	23,367,571	23,368,866
nsv5952474	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	24,739,893	24,741,188

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17407062	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17407062	Submitted genomic		NC_000021.9:g.2336 7571_23368866del	GRCh38 (hg38)		NC_000021.9	Chr21	23,367,571	23,368,866
nssv17407062	Remapped	Perfect	NC_000021.8:g.2473 9893_24741188del	GRCh37.p13	First Pass	NC_000021.8	Chr21	24,739,893	24,741,188

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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