A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023652



Internal ID19112869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18603601..18666701hg38UCSC Ensembl
Innerchr5:18603710..18666810hg19UCSC Ensembl
Innerchr5:18639467..18702567hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3863101
hg1963101
hg1863101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5593n100
Supporting Variantsnssv3635860, nssv3635861, nssv3635862
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023652
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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