A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690869



Internal ID114535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124288462..124749491hg38UCSC Ensembl
chr12:124773008..125234037hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38461030
hg19461030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510152
Supporting Variants
Samples
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690869
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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