A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012605



Internal ID19101822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217782399..217843817hg38UCSC Ensembl
Innerchr2:218647122..218708540hg19UCSC Ensembl
Innerchr2:218355367..218416785hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3861419
hg1961419
hg1861419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4175n100
Supporting Variantsnssv3586817
Samples
Known GenesTNS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012605
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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