A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495035



Internal ID272159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122812746..122818471hg38UCSC Ensembl
chr12:123297293..123303018hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385726
hg195726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690760
Samples
Known GenesCCDC62
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495035
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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