A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295023



Internal ID22139739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148881718..148881851hg38UCSC Ensembl
chr2:149639287..149639420hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192175
Supporting Variants
SamplesHG00513
Known GenesKIF5C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295023
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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