A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687089



Internal ID15423741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62312525..62427975hg38UCSC Ensembl
Innerchr20:60887581..61003031hg19UCSC Ensembl
Innerchr20:60320976..60436426hg18UCSC Ensembl
Innerchr20:60320976..60436426hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38115451
hg19115451
hg18115451
hg17115451
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)nssv687089
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer