A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525491



Internal ID15452784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227790216..227805019hg38UCSC Ensembl
Innerchr2:228654932..228669735hg19UCSC Ensembl
Innerchr2:228363176..228377979hg18UCSC Ensembl
Innerchr2:228480437..228495240hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3814804
hg1914804
hg1814804
hg1714804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701622
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525491
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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