A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041948



Internal ID95664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:857080..1022095hg38UCSC Ensembl
chr11:857080..1022095hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38165016
hg19165016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143243
Supporting Variants
Samples
Known GenesAP2A2, CHID1, MUC6, TSPAN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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