A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699060



Internal ID15089026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161262982..161265093hg38UCSC Ensembl
Innerchr1:161232772..161234883hg19UCSC Ensembl
Innerchr1:159499396..159501507hg18UCSC Ensembl
Innerchr1:158045845..158047956hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382112
hg192112
hg182112
hg172112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523318
Supporting Variants
Samples
Known GenesPCP4L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699060
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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