A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473275



Internal ID21130828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71663001..71665000hg38UCSC Ensembl
chr12:72056781..72058780hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196211
Samples
Known GenesTHAP2, ZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473275
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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