Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5952536

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:815

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: 122 SVs from 26 studies. See in: genome view

Submitted genomic47,499,094-47,499,908

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5952536	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	47,499,094	47,499,908
nsv5952536	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	46,127,838	46,128,652

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17408874	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17408874	Submitted genomic		NC_000020.11:g.474 99094_47499908dup	GRCh38 (hg38)		NC_000020.11	Chr20	47,499,094	47,499,908
nssv17408874	Remapped	Perfect	NC_000020.10:g.461 27838_46128652dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	46,127,838	46,128,652

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)
nssv17408874	0.001	2	1802

You are here: NCBI