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dbVar

Database of genomic structural variation

nsv5867988

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:44,338

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: 233 SVs from 45 studies. See in: genome view

Submitted genomic26,197,164-26,241,501

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5867988	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	26,197,164	26,241,501
nsv5867988	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	26,523,655	26,567,992

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17367277	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17367277	Submitted genomic		NC_000001.11:g.261 97164_26241501dup	GRCh38 (hg38)		NC_000001.11	Chr1	26,197,164	26,241,501
nssv17367277	Remapped	Perfect	NC_000001.10:g.265 23655_26567992dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	26,523,655	26,567,992

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17367277	0.001	1	1650

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