A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525031



Internal ID15105638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23861135..23863248hg38UCSC Ensembl
Innerchr12:24014069..24016182hg19UCSC Ensembl
Innerchr12:23905336..23907449hg18UCSC Ensembl
Innerchr12:23905336..23907449hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382114
hg192114
hg182114
hg172114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701072
Samples
Known GenesSOX5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525031
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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