A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053165



Internal ID19142384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134726215..134766396hg38UCSC Ensembl
Innerchr9:137618061..137658242hg19UCSC Ensembl
Innerchr9:136757882..136798063hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3840182
hg1940182
hg1840182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7725n100
Supporting Variantsnssv3696435
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)nsv1053165
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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