A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694198



Internal ID15430850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4933216..4945962hg38UCSC Ensembl
Innerchr19:4933228..4945974hg19UCSC Ensembl
Innerchr19:4884228..4896974hg18UCSC Ensembl
Innerchr19:4884228..4896974hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812747
hg1912747
hg1812747
hg1712747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518075
Supporting Variants
Samples
Known GenesUHRF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694198
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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