A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023344



Internal ID19112561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56954015..57138795hg38UCSC Ensembl
Innerchr5:56249842..56434622hg19UCSC Ensembl
Innerchr5:56285599..56470379hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38184781
hg19184781
hg18184781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5671n100
Supporting Variantsnssv3642148
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)nsv1023344
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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