A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002716



Internal ID18745248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2825734..3255897hg38UCSC Ensembl
Innerchr3:2867418..3297581hg19UCSC Ensembl
Innerchr3:2842418..3272581hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38430164
hg19430164
hg18430164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4636n100
Supporting Variantsnssv3590379, nssv3590380
Samples
Known GenesCNTN4, CRBN, IL5RA, TRNT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002716
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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