A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032312



Internal ID19121534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17601432..17747964hg38UCSC Ensembl
Innerchr5:17601541..17748073hg19UCSC Ensembl
Innerchr5:17644644..17783807hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38146533
hg19146533
hg18139164
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3635831, nssv3635832, nssv3745822, nssv3635830
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)nsv1032312
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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