A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615830



Internal ID16403239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134653833..134655268hg38UCSC Ensembl
Innerchr9:137545679..137547114hg19UCSC Ensembl
Innerchr9:136685500..136686935hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381436
hg191436
hg181436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1146774
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615830
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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