A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584491



Internal ID16025214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218881839..219069626hg38UCSC Ensembl
Innerchr2:219746561..219934348hg19UCSC Ensembl
Innerchr2:219454805..219642592hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38187788
hg19187788
hg18187788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931575
Samples
Known GenesCCDC108, CDK5R2, CRYBA2, FEV, IHH, LINC00608, LOC100129175, MIR3131, MIR375, WNT10A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584491
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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