A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027050



Internal ID18769582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:122924680..123134549hg38UCSC Ensembl
Innerchr7:122564734..122774603hg19UCSC Ensembl
Innerchr7:122351970..122561839hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38209870
hg19209870
hg18209870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6605n100
Supporting Variantsnssv3662126
Samples
Known GenesSLC13A1, TAS2R16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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