A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713481



Internal ID15660751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55052855..55054735hg38UCSC Ensembl
Innerchr1:55518528..55520408hg19UCSC Ensembl
Innerchr1:55291116..55292996hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381881
hg191881
hg181881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546302
Supporting Variants
Samples
Known GenesPCSK9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713481
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