A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545353



Internal ID15986076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9336601hg38UCSC Ensembl
Innerchr1:9318401..9396660hg19UCSC Ensembl
Innerchr1:9240988..9319247hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3878260
hg1978260
hg1878260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97n54
Supporting Variantsnssv709659, nssv1173661, nssv709660, nssv1173660
Samples1780854556_A, HGDP00136
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545353
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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