A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909348



Internal ID7017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6985631..6985890hg38UCSC Ensembl
chr2:7125762..7126021hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449731
Supporting Variants
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909348
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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