A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045708



Internal ID18788239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135869916..135949196hg38UCSC Ensembl
Innerchr9:138761762..138841042hg19UCSC Ensembl
Innerchr9:137901583..137980863hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3879281
hg1979281
hg1879281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7728n100
Supporting Variantsnssv3696506
Samples
Known GenesCAMSAP1, UBAC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045708
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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