A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591613



Internal ID21540190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122693937..122706672hg38UCSC Ensembl
chr12:123178484..123191219hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812736
hg1912736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077656
SamplesHG01114
Known GenesHCAR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591613
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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