A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013416



Internal ID19102634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97856238..98072266hg38UCSC Ensembl
Innerchr2:98472701..98688729hg19UCSC Ensembl
Innerchr2:97839133..98055161hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38216029
hg19216029
hg18216029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580048
Samples
Known GenesTMEM131
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013416
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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