A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593280



Internal ID16034003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1185425..1261142hg38UCSC Ensembl
Innerchr4:1179213..1254930hg19UCSC Ensembl
Innerchr4:1169213..1244930hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3875718
hg1975718
hg1875718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8891n54
Supporting Variantsnssv1153432
SamplesNINDS_64
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, SPON2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593280
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