A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595142



Internal ID16035865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109688325..109735574hg38UCSC Ensembl
Innerchr4:110609481..110656730hg19UCSC Ensembl
Innerchr4:110828930..110876179hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3847250
hg1947250
hg1847250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153165
SamplesHGDP01300
Known GenesCASP6, PLA2G12A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595142
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