A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510152



Internal ID286780
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 StatusM
Merged Variants
Supporting Variantsnssv17690869
Samples
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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