A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615834



Internal ID16403243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134654313..134655122hg38UCSC Ensembl
Innerchr9:137546159..137546968hg19UCSC Ensembl
Innerchr9:136685980..136686789hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38810
hg19810
hg18810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12976n54
Supporting Variantsnssv1146778, nssv1146779
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615834
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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