A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048577



Internal ID100260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77832540..77833208hg38UCSC Ensembl
chr11:77543586..77544254hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504208
Supporting Variants
Samples
Known GenesAAMDC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048577
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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