A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689432



Internal ID15426084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7417608..7466630hg38UCSC Ensembl
Innerchr5:7417721..7466743hg19UCSC Ensembl
Innerchr5:7470721..7519743hg18UCSC Ensembl
Innerchr5:7470721..7519743hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3849023
hg1949023
hg1849023
hg1749023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517197
Supporting Variants
Samples
Known GenesADCY2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689432
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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