A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498077



Internal ID275084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122675342..122678444hg38UCSC Ensembl
chr12:123159889..123162991hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383103
hg193103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498077
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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