A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148687



Internal ID15876532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110189806..110199873hg38UCSC Ensembl
Innerchr13:110842153..110852220hg19UCSC Ensembl
Innerchr13:109640154..109650221hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3810068
hg1910068
hg1810068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563102
Supporting Variants
SamplesHGDP00857
Known GenesCOL4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148687
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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