A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504128



Internal ID280937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71504066..71537625hg38UCSC Ensembl
chr11:71215112..71248671hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3833560
hg1933560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046434
Samples
Known GenesKRTAP5-7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504128
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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