A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652425



Internal ID15042391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11367487..11394598hg38UCSC Ensembl
Innerchr12:11520421..11547532hg19UCSC Ensembl
Innerchr12:11411688..11438799hg18UCSC Ensembl
Innerchr12:11411688..11438799hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3827112
hg1927112
hg1827112
hg1727112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516262
Supporting Variants
Samples
Known GenesPRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652425
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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