A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792076



Internal ID21237414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132730343..132730405hg38UCSC Ensembl
chr12:133306929..133306991hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv71n137
Supporting Variantsnssv13691202
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792076
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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