A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615829



Internal ID16403238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134556100..134739352hg38UCSC Ensembl
Innerchr9:137447946..137631198hg19UCSC Ensembl
Innerchr9:136587767..136771019hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38183253
hg19183253
hg18183253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1146773
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615829
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer