A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462172



Internal ID21119725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29406401..29408700hg38UCSC Ensembl
chr12:29559334..29561633hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178855
Samples
Known GenesOVCH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462172
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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