A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557268



Internal ID15997991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6952303..6960947hg38UCSC Ensembl
Innerchr12:7061466..7070110hg19UCSC Ensembl
Innerchr12:6931727..6940371hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388645
hg198645
hg188645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2326n54
Supporting Variantsnssv787265
Samples
Known GenesPTPN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557268
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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