A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201778



Internal ID22351031
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294421, nssv14294428, nssv14294425, nssv14294429, nssv14294424, nssv14294423, nssv14294426, nssv14294422, nssv14294427
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLF7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201778
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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