A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523615



Internal ID15450908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3009647..3014986hg38UCSC Ensembl
Innerchr12:3118813..3124152hg19UCSC Ensembl
Innerchr12:2989074..2994413hg18UCSC Ensembl
Innerchr12:2989074..2994413hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385340
hg195340
hg185340
hg175340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699411
Samples
Known GenesTEAD4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523615
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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