A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv661597



Internal ID15051563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57189889..57222278hg38UCSC Ensembl
Innerchr12:57583672..57616061hg19UCSC Ensembl
Innerchr12:55869939..55902328hg18UCSC Ensembl
Innerchr12:55869939..55902328hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3832390
hg1932390
hg1832390
hg1732390
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519293
Supporting Variants
Samples
Known GenesLRP1, MIR1228, NXPH4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv661597
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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