A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999315



Internal ID19158851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217782399..217832226hg38UCSC Ensembl
Innerchr2:218647122..218696949hg19UCSC Ensembl
Innerchr2:218355367..218405194hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3849828
hg1949828
hg1849828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4175n100
Supporting Variantsnssv3586815
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)nsv999315
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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