A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502897



Internal ID279745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52604309..52618589hg38UCSC Ensembl
chr12:52998093..53012373hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3814281
hg1914281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058784
Samples
Known GenesKRT73
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502897
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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