A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659422



Internal ID15049388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63814307..64003609hg38UCSC Ensembl
Innerchr17:61891667..62080969hg19UCSC Ensembl
Innerchr17:59245399..59434701hg18UCSC Ensembl
Innerchr17:59245399..59434701hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38189303
hg19189303
hg18189303
hg17189303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517272
Supporting Variants
Samples
Known GenesC17orf72, CD79B, CSH1, CSH2, CSHL1, DDX42, FTSJ3, GH1, GH2, ICAM2, PSMC5, SCN4A, SMARCD2, TCAM1P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv659422
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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