A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694145



Internal ID15430797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68604769..68621634hg38UCSC Ensembl
Innerchr1:69070452..69087317hg19UCSC Ensembl
Innerchr1:68843040..68859905hg18UCSC Ensembl
Innerchr1:68782473..68799338hg17UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg3816866
hg1916866
hg1816866
hg1716866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522218
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694145
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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