A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191361



Internal ID22342075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15611445..15611621hg38UCSC Ensembl
chr2:15751569..15751745hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4498n152
Supporting Variantsnssv14288235, nssv14288236, nssv14288237
SamplesNA19238, HG00513, HG00514
Known GenesDDX1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191361
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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