A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063718



Internal ID18806249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75362071..75574173hg38UCSC Ensembl
Innerchr16:75395969..75608071hg19UCSC Ensembl
Innerchr16:73953470..74165572hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38212103
hg19212103
hg18212103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559580
Samples
Known GenesCFDP1, CHST5, CHST6, GABARAPL2, TMEM170A, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063718
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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