A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517387



Internal ID15097994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32101294..32189234hg38UCSC Ensembl
Innerchr5:32101400..32189340hg19UCSC Ensembl
Innerchr5:32137157..32225097hg18UCSC Ensembl
Innerchr5:32137157..32225097hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3887941
hg1987941
hg1887941
hg1787941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673070, nssv686508, nssv682711, nssv689430, nssv685781, nssv689249, nssv673833, nssv683367, nssv665298, nssv675818, nssv677310, nssv692921, nssv664903, nssv679681, nssv666703, nssv657727, nssv683810, nssv659254, nssv651993, nssv651873, nssv670293, nssv676452, nssv670079, nssv665343, nssv692617
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517387
Frequency
Sample Size2026
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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