A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004950



Internal ID19094167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68524562..68655679hg38UCSC Ensembl
Innerchr4:69390280..69521397hg19UCSC Ensembl
Innerchr4:69072875..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38131118
hg19131118
hg18131118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5269n100
Supporting Variantsnssv3629924, nssv3629939, nssv3629925, nssv3629935, nssv3629930, nssv3629928, nssv3629937, nssv3629932, nssv3629938, nssv3629934, nssv3745725, nssv3629927, nssv3629931, nssv3745726, nssv3629933, nssv3629926, nssv3629929, nssv3745724, nssv3629936
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004950
Frequency
Sample Size11257
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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