A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047540



Internal ID18790071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68787002..69188723hg38UCSC Ensembl
Innerchr9:71401918..71803639hg19UCSC Ensembl
Innerchr9:70591738..70993459hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38401722
hg19401722
hg18401722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7665n100
Supporting Variantsnssv3696218
Samples
Known GenesFXN, PIP5K1B, PRKACG, TJP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047540
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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