A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695689



Internal ID15432341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131210960..131243271hg38UCSC Ensembl
Innerchr12:131695505..131727816hg19UCSC Ensembl
Innerchr12:130261458..130293769hg18UCSC Ensembl
Innerchr12:130220385..130252696hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3832312
hg1932312
hg1832312
hg1732312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517271
Supporting Variants
Samples
Known GenesLOC116437
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695689
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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