A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024836



Internal ID18767367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14170135hg38UCSC Ensembl
Innerchr5:13798819..14170244hg19UCSC Ensembl
Innerchr5:13851819..14223244hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38371426
hg19371426
hg18371426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5577n100
Supporting Variantsnssv3638291
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024836
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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