A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058622



Internal ID18801153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47798576..48077885hg38UCSC Ensembl
Innerchr19:48301833..48581142hg19UCSC Ensembl
Innerchr19:52993645..53272954hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38279310
hg19279310
hg18279310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573814
Samples
Known GenesBSPH1, CABP5, CRX, ELSPBP1, PLA2G4C, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1, TPRX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058622
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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