A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673448



Internal ID15410100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62315508..62412954hg38UCSC Ensembl
Innerchr20:60890564..60988010hg19UCSC Ensembl
Innerchr20:60323959..60421405hg18UCSC Ensembl
Innerchr20:60323959..60421405hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3897447
hg1997447
hg1897447
hg1797447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520024
Supporting Variants
Samples
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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