A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684566



Internal ID108232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113286451..113286468hg38UCSC Ensembl
chr12:113724256..113724273hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540815
Supporting Variants
Samples
Known GenesTPCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.103341


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