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

dbVar

Database of genomic structural variation

nsv5957917

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:311,637

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: 414 SVs from 44 studies. See in: genome view

Submitted genomic28,840,893-29,152,529

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5957917	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000020.11	Chr20	28,840,893	29,152,529

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17398934	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17398934	Submitted genomic	NC_000020.11:g.288 40893_29152529dup	GRCh38 (hg38)	NC_000020.11	Chr20	28,840,893	29,152,529

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)
nssv17398934	0.7	7	10

You are here: NCBI