A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292424



Internal ID22327152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38658036..38658182hg38UCSC Ensembl
chr2:38885178..38885324hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201899
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292424
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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