A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510835



Internal ID287442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52917901..52918232hg38UCSC Ensembl
chr12:53311685..53312016hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058296
Samples
Known GenesKRT8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510835
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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