A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528970



Internal ID15456263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213725861..213745728hg38UCSC Ensembl
Innerchr2:214590585..214610452hg19UCSC Ensembl
Innerchr2:214298830..214318697hg18UCSC Ensembl
Innerchr2:214416091..214435958hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3819868
hg1919868
hg1819868
hg1719868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705669
Samples
Known GenesSPAG16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528970
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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