A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690284



Internal ID113950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99884143..100078827hg38UCSC Ensembl
chr12:100277921..100472605hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38194685
hg19194685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508241
Supporting Variants
Samples
Known GenesANKS1B, UHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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