A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583532



Internal ID16370941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163781948..163789057hg38UCSC Ensembl
Innerchr2:164638458..164645567hg19UCSC Ensembl
Innerchr2:164346704..164353813hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg387110
hg197110
hg187110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7147n54
Supporting Variantsnssv924951, nssv924957, nssv924959, nssv924950, nssv924955, nssv924958, nssv924952, nssv924949, nssv924954, nssv924953, nssv924956
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583532
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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