A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206480



Internal ID22355015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174642628..174643683hg38UCSC Ensembl
chr2:175507356..175508411hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295630
SamplesNA19239
Known GenesWIPF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206480
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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