A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491244



Internal ID21148797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121923056..121926126hg38UCSC Ensembl
chr12:122360962..122364032hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383071
hg193071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997818
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491244
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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