A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695983



Internal ID15085949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55034756..55087881hg38UCSC Ensembl
Innerchr1:55500429..55553554hg19UCSC Ensembl
Innerchr1:55273017..55326142hg18UCSC Ensembl
Innerchr1:55212450..55265575hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853126
hg1953126
hg1853126
hg1753126
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518539
Supporting Variants
Samples
Known GenesPCSK9, USP24
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695983
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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