A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705110



Internal ID15095076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43540257..43573166hg38UCSC Ensembl
Innerchr1:44005928..44038837hg19UCSC Ensembl
Innerchr1:43778515..43811424hg18UCSC Ensembl
Innerchr1:43675021..43707930hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3832910
hg1932910
hg1832910
hg1732910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519570
Supporting Variants
Samples
Known GenesPTPRF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705110
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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