A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497334



Internal ID274373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64289446..64294440hg38UCSC Ensembl
chr11:64056918..64061912hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg384995
hg194995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046710
Samples
Known GenesGPR137, KCNK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497334
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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