A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527935



Internal ID15455228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217615507..217679169hg38UCSC Ensembl
Innerchr2:218480230..218543892hg19UCSC Ensembl
Innerchr2:218188475..218252137hg18UCSC Ensembl
Innerchr2:218305736..218369398hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3863663
hg1963663
hg1863663
hg1763663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704443
Samples
Known GenesDIRC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527935
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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