A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005800



Internal ID19095017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130100759..130177521hg38UCSC Ensembl
Innerchr3:129819602..129896364hg19UCSC Ensembl
Innerchr3:131302292..131379054hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3876763
hg1976763
hg1876763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4900n100
Supporting Variantsnssv3741465, nssv3741464
Samples
Known GenesFAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005800
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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