A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486687



Internal ID21144240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122555650..122786484hg38UCSC Ensembl
chr12:123040197..123271031hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38230835
hg19230835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183406
Samples
Known GenesCCDC62, DENR, HCAR1, HCAR2, HCAR3, KNTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486687
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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