A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560025



Internal ID16347434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101711851..101713222hg38UCSC Ensembl
Innerchr12:102105629..102107000hg19UCSC Ensembl
Innerchr12:100629760..100631131hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381372
hg191372
hg181372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2837n54
Supporting Variantsnssv801764, nssv801768, nssv801767, nssv801766, nssv801765, nssv801762, nssv801763
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560025
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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