A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001460



Internal ID18743991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:139475791..139522774hg38UCSC Ensembl
Innerchr3:139194633..139241616hg19UCSC Ensembl
Innerchr3:140677323..140724306hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3846984
hg1946984
hg1846984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3608337
Samples
Known GenesRBP1, RBP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001460
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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