A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182623



Internal ID21321419
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931591
Supporting Variants
SamplesHG002
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182623
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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