A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615628



Internal ID16403037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133428911..133429629hg38UCSC Ensembl
Innerchr9:136294031..136294749hg19UCSC Ensembl
Innerchr9:135283852..135284570hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38719
hg19719
hg18719
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12933n54
Supporting Variantsnssv1145423, nssv1145422, nssv1145421, nssv1145424
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615628
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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