A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694106



Internal ID15084072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40170715..40222507hg38UCSC Ensembl
Innerchr1:40636387..40688179hg19UCSC Ensembl
Innerchr1:40408974..40460766hg18UCSC Ensembl
Innerchr1:40305480..40357272hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3851793
hg1951793
hg1851793
hg1751793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521874
Supporting Variants
Samples
Known GenesRLF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694106
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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