A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017344



Internal ID19106561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56954015..57147581hg38UCSC Ensembl
Innerchr5:56249842..56443408hg19UCSC Ensembl
Innerchr5:56285599..56479165hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38193567
hg19193567
hg18193567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5671n100
Supporting Variantsnssv3642149
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)nsv1017344
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer