A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050272



Internal ID18792803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1002943..1319729hg38UCSC Ensembl
Innerchr16:1052943..1369730hg19UCSC Ensembl
Innerchr16:992944..1309731hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38316787
hg19316788
hg18316788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2692n100
Supporting Variantsnssv3556950
Samples
Known GenesC1QTNF8, CACNA1H, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSD1, TPSG1, UBE2I
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050272
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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