A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520424



Internal ID15101031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75253008..75347103hg38UCSC Ensembl
Innerchr12:75646788..75740883hg19UCSC Ensembl
Innerchr12:73933055..74027150hg18UCSC Ensembl
Innerchr12:73933055..74027150hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3894096
hg1994096
hg1894096
hg1794096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n21
Supporting Variantsnssv697408
Samples
Known GenesCAPS2, GLIPR1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520424
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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