A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1121318



Internal ID15974504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130355235..130358809hg38UCSC Ensembl
Innerchr8:131367481..131371055hg19UCSC Ensembl
Innerchr8:131436663..131440237hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383575
hg193575
hg183575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612285
Supporting Variants
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1121318
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