A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527936



Internal ID15108543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219270486..219328674hg38UCSC Ensembl
Innerchr2:220135208..220193396hg19UCSC Ensembl
Innerchr2:219843452..219901640hg18UCSC Ensembl
Innerchr2:219960713..220018901hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3858189
hg1958189
hg1858189
hg1758189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704444
Samples
Known GenesDNAJB2, MIR153-1, PTPRN, RESP18, TUBA4B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527936
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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