A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692213



Internal ID15082179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45854586..45965936hg38UCSC Ensembl
Innerchr20:44483225..44594575hg19UCSC Ensembl
Innerchr20:43916632..44027982hg18UCSC Ensembl
Innerchr20:43916632..44027982hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38111351
hg19111351
hg18111351
hg17111351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517296
Supporting Variants
Samples
Known GenesACOT8, CTSA, NEURL2, PCIF1, PLTP, SPATA25, ZNF335, ZSWIM1, ZSWIM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692213
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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