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dbVar

Database of genomic structural variation

nsv5869526

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:100

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: 108 SVs from 22 studies. See in: genome view

Submitted genomic92,914,901-92,915,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5869526	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	92,914,901	92,915,000
nsv5869526	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	93,380,458	93,380,557

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17396386	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17396386	Submitted genomic		NC_000001.11:g.929 14901_92915000dup	GRCh38 (hg38)		NC_000001.11	Chr1	92,914,901	92,915,000
nssv17396386	Remapped	Perfect	NC_000001.10:g.933 80458_93380557dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	93,380,458	93,380,557

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)
nssv17396386	1	2	2

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