A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030787



Internal ID18773318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13799272..14180695hg38UCSC Ensembl
Innerchr5:13799381..14180804hg19UCSC Ensembl
Innerchr5:13852381..14233804hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38381424
hg19381424
hg18381424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5577n100
Supporting Variantsnssv3638298
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)nsv1030787
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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