A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3931591



Internal ID21351660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841820..116841895hg38UCSC Ensembl
chr12:117279625..117279700hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182623
SamplesHG002
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3931591
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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