A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016253



Internal ID19105472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50268984hg38UCSC Ensembl
Innerchr5:49455624..49564818hg19UCSC Ensembl
Innerchr5:49491381..49600575hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38109195
hg19109195
hg18109195
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5662n100
Supporting Variantsnssv3642105, nssv3642104, nssv3642103, nssv3642107, nssv3642106, nssv3642102
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)nsv1016253
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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