A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294429



Internal ID22325425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207076957..207078073hg38UCSC Ensembl
chr2:207941681..207942797hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201778
Supporting Variants
SamplesNA19240
Known GenesKLF7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294429
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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