A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525970



Internal ID15106577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99686210..99710998hg38UCSC Ensembl
Innerchr12:100079988..100104776hg19UCSC Ensembl
Innerchr12:98604119..98628907hg18UCSC Ensembl
Innerchr12:98582456..98607244hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3824789
hg1924789
hg1824789
hg1724789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702185
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525970
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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