A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv817520



Internal ID16111476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93631511..93749857hg38UCSC Ensembl
Innerchr13:94283764..94402110hg19UCSC Ensembl
Innerchr13:93081765..93200111hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38118347
hg19118347
hg18118347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562753
Supporting Variants
Samples
Known GenesGPC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv817520
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