A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525873



Internal ID15106480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57141483..57222230hg38UCSC Ensembl
Innerchr12:57535266..57616013hg19UCSC Ensembl
Innerchr12:55821533..55902280hg18UCSC Ensembl
Innerchr12:55821533..55902280hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3880748
hg1980748
hg1880748
hg1780748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96n21
Supporting Variantsnssv702073
Samples
Known GenesLRP1, MIR1228, NXPH4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525873
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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