A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv668331



Internal ID15058297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53037226..53340722hg38UCSC Ensembl
Innerchr12:53431010..53734506hg19UCSC Ensembl
Innerchr12:51717277..52020773hg18UCSC Ensembl
Innerchr12:51717277..52020773hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38303497
hg19303497
hg18303497
hg17303497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesAAAS, C12orf10, CSAD, EIF4B, ESPL1, IGFBP6, ITGB7, LOC283335, MFSD5, MIR6757, PFDN5, RARG, SOAT2, SP7, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv668331
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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