A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208369



Internal ID22356619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62818108..62818312hg38UCSC Ensembl
chr2:63045243..63045447hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290255, nssv14290254
SamplesNA19238, HG00514
Known GenesEHBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208369
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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