A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002531



Internal ID18745063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217740775..217817439hg38UCSC Ensembl
Innerchr2:218605498..218682162hg19UCSC Ensembl
Innerchr2:218313743..218390407hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876665
hg1976665
hg1876665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4174n100
Supporting Variantsnssv3586813
Samples
Known GenesDIRC3, TNS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002531
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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