A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686669



Internal ID15076635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43544900..43606395hg38UCSC Ensembl
Innerchr1:44010571..44072066hg19UCSC Ensembl
Innerchr1:43783158..43844653hg18UCSC Ensembl
Innerchr1:43679664..43741159hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3861496
hg1961496
hg1861496
hg1761496
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)nssv686669
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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