A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037188



Internal ID18779719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1002943..1247707hg38UCSC Ensembl
Innerchr16:1052943..1297708hg19UCSC Ensembl
Innerchr16:992944..1237709hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244765
hg19244766
hg18244766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2691n100
Supporting Variantsnssv3556948
Samples
Known GenesC1QTNF8, CACNA1H, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037188
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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