A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050057



Internal ID19139276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54455791..54510238hg38UCSC Ensembl
Innerchr13:55029926..55084373hg19UCSC Ensembl
Innerchr13:53927927..53982374hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3854448
hg1954448
hg1854448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1655n100
Supporting Variantsnssv3523483
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050057
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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