A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010527



Internal ID19099744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68548042..68618379hg38UCSC Ensembl
Innerchr4:69413760..69484097hg19UCSC Ensembl
Innerchr4:69096355..69166692hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3870338
hg1970338
hg1870338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5276n100
Supporting Variantsnssv3630879, nssv3743898, nssv3630878
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010527
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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