A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125744



Internal ID15978930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143916360..143920044hg38UCSC Ensembl
Innerchr8:144990528..144994212hg19UCSC Ensembl
Innerchr8:145062516..145066200hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383685
hg193685
hg183685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612904
Supporting Variants
Samples
Known GenesPLEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125744
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