A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580048



Internal ID18878329
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 StatusS
Merged Variantsnsv1013416
Supporting Variants
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)nssv3580048
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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