A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527330



Internal ID15107937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233779390..233794259hg38UCSC Ensembl
Innerchr2:234688036..234702905hg19UCSC Ensembl
Innerchr2:234352775..234367644hg18UCSC Ensembl
Innerchr2:234470036..234484905hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3814870
hg1914870
hg1814870
hg1714870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703755
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527330
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer