A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496812



Internal ID273880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52448955..52490050hg38UCSC Ensembl
chr12:52842739..52883834hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3841096
hg1941096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058773
Samples
Known GenesKRT6A, KRT6B, KRT6C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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