A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615630



Internal ID16403039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133428911..133429735hg38UCSC Ensembl
Innerchr9:136294031..136294855hg19UCSC Ensembl
Innerchr9:135283852..135284676hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38825
hg19825
hg18825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12934n54
Supporting Variantsnssv1145427, nssv1145431, nssv1145429, nssv1145432, nssv1145428, nssv1145430
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615630
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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