A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527129



Internal ID15107736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55034756..55058311hg38UCSC Ensembl
Innerchr1:55500429..55523984hg19UCSC Ensembl
Innerchr1:55273017..55296572hg18UCSC Ensembl
Innerchr1:55212450..55236005hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3823556
hg1923556
hg1823556
hg1723556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703514
Samples
Known GenesPCSK9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527129
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer