A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688775



Internal ID112441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67438108..67591197hg38UCSC Ensembl
chr12:67831888..67984977hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38153090
hg19153090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503089
Supporting Variants
Samples
Known GenesLOC100507175
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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