A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292973



Internal ID22122585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117982086..117982198hg38UCSC Ensembl
chr2:118739662..118739774hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525611
Supporting Variants
SamplesHG00512
Known GenesCCDC93
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292973
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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