A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv982573



Internal ID16276529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184220630..184288607hg38UCSC Ensembl
Innerchr3:183938418..184006395hg19UCSC Ensembl
Innerchr3:185421112..185489089hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3867978
hg1967978
hg1867978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv592666
Supporting Variants
Samples
Known GenesALG3, CAMK2N2, ECE2, MIR1224, VWA5B2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv982573
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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