A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13709094



Internal ID21230854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123728956..123728956hg38UCSC Ensembl
chr12:124213503..124213503hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791594
Supporting Variants
Samples
Known GenesATP6V0A2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13709094
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.78125


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