A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054378



Internal ID18796909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78827304..78867538hg38UCSC Ensembl
Innerchr13:79401439..79441673hg19UCSC Ensembl
Innerchr13:78299440..78339674hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3840235
hg1940235
hg1840235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530514
Samples
Known GenesLINC00331
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054378
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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