A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148693



Internal ID15508430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111979751..112146300hg38UCSC Ensembl
Innerchr13:112634065..112800614hg19UCSC Ensembl
Innerchr13:111682066..111848615hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38166550
hg19166550
hg18166550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563189
Supporting Variants
Samples1780862444_A
Known GenesSOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148693
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