A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037089



Internal ID19126308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134724228..134780955hg38UCSC Ensembl
Innerchr9:137616074..137672801hg19UCSC Ensembl
Innerchr9:136755895..136812622hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3856728
hg1956728
hg1856728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7724n100
Supporting Variantsnssv3696432, nssv3696433
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037089
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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