A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592040



Internal ID16379449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150762808..150763449hg38UCSC Ensembl
Innerchr3:150480595..150481236hg19UCSC Ensembl
Innerchr3:151963285..151963926hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38642
hg19642
hg18642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8651n54
Supporting Variantsnssv976742, nssv976744, nssv976745, nssv976743, nssv976751, nssv976749, nssv976748, nssv976741, nssv976747, nssv976752, nssv976750, nssv976753, nssv976746
Samples
Known GenesSIAH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592040
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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