A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584907



Internal ID16372316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240923589..240924647hg38UCSC Ensembl
Innerchr2:241863006..241864064hg19UCSC Ensembl
Innerchr2:241511679..241512737hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381059
hg191059
hg181059
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7380n54
Supporting Variantsnssv934444, nssv934443, nssv934442, nssv934445
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584907
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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