A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021593



Internal ID18764127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34798496..34983041hg38UCSC Ensembl
Innerchr5:34798601..34983146hg19UCSC Ensembl
Innerchr5:34834358..35018903hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38184546
hg19184546
hg18184546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5629n100
Supporting Variantsnssv3745965, nssv3745964
Samples
Known GenesBRIX1, DNAJC21, RAD1, RAI14, TTC23L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021593
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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