A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685078



Internal ID108744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122261812..122275427hg38UCSC Ensembl
chr12:122746359..122759974hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813616
hg1913616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143561
Supporting Variants
Samples
Known GenesCLIP1, VPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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