A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048341



Internal ID100099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73709107..73715882hg38UCSC Ensembl
chr11:73420152..73426927hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386776
hg196776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498941
Supporting Variants
Samples
Known GenesRAB6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048341
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


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