A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501699



Internal ID278591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64292128..64330128hg38UCSC Ensembl
chr12:64685908..64723908hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688613
Samples
Known GenesC12orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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