A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525434



Internal ID15106041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55489514..55614504hg38UCSC Ensembl
Innerchr2:55716650..55841640hg19UCSC Ensembl
Innerchr2:55570154..55695144hg18UCSC Ensembl
Innerchr2:55628301..55753291hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38124991
hg19124991
hg18124991
hg17124991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701562
Samples
Known GenesCCDC104, SMEK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525434
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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