A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615625



Internal ID16403034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133428791..133429735hg38UCSC Ensembl
Innerchr9:136293911..136294855hg19UCSC Ensembl
Innerchr9:135283732..135284676hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12934n54
Supporting Variantsnssv1145418, nssv1145417, nssv1145416
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615625
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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