A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560269



Internal ID16000992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113234772..113302166hg38UCSC Ensembl
Innerchr12:113672577..113739971hg19UCSC Ensembl
Innerchr12:112156960..112224354hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3867395
hg1967395
hg1867395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802730
Samples
Known GenesMIR6762, SLC8B1, TPCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560269
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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