A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653723



Internal ID15043689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53037226..53224045hg38UCSC Ensembl
Innerchr12:53431010..53617829hg19UCSC Ensembl
Innerchr12:51717277..51904096hg18UCSC Ensembl
Innerchr12:51717277..51904096hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38186820
hg19186820
hg18186820
hg17186820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesCSAD, EIF4B, IGFBP6, ITGB7, LOC283335, MIR6757, RARG, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653723
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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