A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290737



Internal ID22222020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73834265..73834393hg38UCSC Ensembl
chr2:74061392..74061520hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202889
Supporting Variants
SamplesHG00733
Known GenesSTAMBP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290737
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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