A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997547



Internal ID18810397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58504269..60219035hg38UCSC Ensembl
Innerchr3:58489996..60204763hg19UCSC Ensembl
Innerchr3:58465036..60179803hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381714767
hg191714768
hg181714768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4749n100
Supporting Variantsnssv3731124, nssv3593392
Samples
Known GenesACOX2, C3orf67, FAM107A, FAM3D, FHIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997547
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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