A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528763



Internal ID15456056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118973612..118974466hg38UCSC Ensembl
Innerchr2:119731188..119732042hg19UCSC Ensembl
Innerchr2:119447658..119448512hg18UCSC Ensembl
Innerchr2:119447418..119448272hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
hg17855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705425
Samples
Known GenesMARCO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528763
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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