A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048447



Internal ID19137666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:87514178..87584484hg38UCSC Ensembl
Innerchr13:88166433..88236739hg19UCSC Ensembl
Innerchr13:86964434..87034740hg18UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3870307
hg1970307
hg1870307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1724n100
Supporting Variantsnssv3525447
Samples
Known GenesMIR4500HG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048447
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