A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052224



Internal ID102671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119058364..119114364hg38UCSC Ensembl
chr11:118929075..118985074hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3856001
hg1956000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143009
Supporting Variants
Samples
Known GenesC2CD2L, DPAGT1, H2AFX, HMBS, VPS11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001786


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