A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13682627



Internal ID21204484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231249802..231249949hg38UCSC Ensembl
chr2:232114515..232114662hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805735
Supporting Variants
Samples
Known GenesARMC9
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13682627
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.241935


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