A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046885



Internal ID18789416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1063695..1299208hg38UCSC Ensembl
Innerchr16:1113695..1349209hg19UCSC Ensembl
Innerchr16:1053696..1289210hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38235514
hg19235515
hg18235515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556952
Samples
Known GenesC1QTNF8, CACNA1H, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSD1, TPSG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046885
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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