A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054600



Internal ID18797131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39227146..39970890hg38UCSC Ensembl
Innerchr13:39801283..40545027hg19UCSC Ensembl
Innerchr13:38699283..39443027hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38743745
hg19743745
hg18743745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523386
Samples
Known GenesCOG6, LHFP, MIR4305
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054600
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