A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557943



Internal ID15998666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691776..29693199hg38UCSC Ensembl
Innerchr12:29844709..29846132hg19UCSC Ensembl
Innerchr12:29735976..29737399hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381424
hg191424
hg181424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2446n54
Supporting Variantsnssv790801, nssv790800, nssv790799
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557943
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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