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dbVar

Database of genomic structural variation

nsv5868287

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:519

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: 115 SVs from 23 studies. See in: genome view

Submitted genomic52,311,468-52,311,986

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5868287	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	52,311,468	52,311,986
nsv5868287	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	52,777,140	52,777,658

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17372754	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17372754	Submitted genomic		NC_000001.11:g.523 11468_52311986del	GRCh38 (hg38)		NC_000001.11	Chr1	52,311,468	52,311,986
nssv17372754	Remapped	Perfect	NC_000001.10:g.527 77140_52777658del	GRCh37.p13	First Pass	NC_000001.10	Chr1	52,777,140	52,777,658

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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