A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548406



Internal ID15989129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186773815..186834094hg38UCSC Ensembl
Innerchr1:186742947..186803226hg19UCSC Ensembl
Innerchr1:185009570..185069849hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3860280
hg1960280
hg1860280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173930
SamplesHGDP01185
Known GenesPLA2G4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548406
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