A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528185



Internal ID15455478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222474435..222474863hg38UCSC Ensembl
Innerchr2:223339154..223339582hg19UCSC Ensembl
Innerchr2:223047398..223047826hg18UCSC Ensembl
Innerchr2:223164659..223165087hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
hg17429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704741
Samples
Known GenesSGPP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528185
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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