A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054415



Internal ID18796946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50023985..50076802hg38UCSC Ensembl
Innerchr13:50598121..50650938hg19UCSC Ensembl
Innerchr13:49496122..49548939hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3852818
hg1952818
hg1852818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523457
Samples
Known GenesDLEU2, MIR15A, MIR16-1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054415
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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