A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675988



Internal ID15065954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45352886..45364001hg38UCSC Ensembl
Innerchr19:45856144..45867259hg19UCSC Ensembl
Innerchr19:50547984..50559099hg18UCSC Ensembl
Innerchr19:50547984..50559099hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3811116
hg1911116
hg1811116
hg1711116
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515681
Supporting Variants
Samples
Known GenesERCC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675988
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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