A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024202



Internal ID18766735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32170169hg38UCSC Ensembl
Innerchr5:32107084..32170275hg19UCSC Ensembl
Innerchr5:32142841..32206032hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3863192
hg1963192
hg1863192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5622n100
Supporting Variantsnssv3745946, nssv3637013, nssv3637014, nssv3637011, nssv3745947, nssv3745942, nssv3745943, nssv3745941, nssv3745944, nssv3637010, nssv3637012, nssv3745945
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024202
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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