A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505222



Internal ID282004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71582494..71582560hg38UCSC Ensembl
chr11:71293540..71293606hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046445
Samples
Known GenesKRTAP5-11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505222
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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