A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615635



Internal ID16403044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133429120..133429735hg38UCSC Ensembl
Innerchr9:136294240..136294855hg19UCSC Ensembl
Innerchr9:135284061..135284676hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38616
hg19616
hg18616
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12936n54
Supporting Variantsnssv1145446, nssv1145444, nssv1145442, nssv1145441, nssv1145443, nssv1145445
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615635
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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