A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042758



Internal ID18785289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1002943..1286437hg38UCSC Ensembl
Innerchr16:1052943..1336438hg19UCSC Ensembl
Innerchr16:992944..1276439hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38283495
hg19283496
hg18283496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2692n100
Supporting Variantsnssv3556949
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)nsv1042758
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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