A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015634



Internal ID18758168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159750943..160620377hg38UCSC Ensembl
Innerchr5:159177950..160047384hg19UCSC Ensembl
Innerchr5:159110528..159979962hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38869435
hg19869435
hg18869435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648224
Samples
Known GenesADRA1B, ATP10B, C1QTNF2, C5orf54, CCNJL, FABP6, MIR146A, MIR3142, PTTG1, PWWP2A, SLU7, TTC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015634
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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