A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522006



Internal ID15449299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56269454..56318710hg38UCSC Ensembl
Innerchr2:56496589..56545845hg19UCSC Ensembl
Innerchr2:56350093..56399349hg18UCSC Ensembl
Innerchr2:56408240..56457496hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3849257
hg1949257
hg1849257
hg1749257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694776
Samples
Known GenesCCDC85A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522006
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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