A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604253



Internal ID16044976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:98409521..99182162hg38UCSC Ensembl
Innerchr6:98857397..99630038hg19UCSC Ensembl
Innerchr6:98964118..99736759hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38772642
hg19772642
hg18772642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1069263
Samples
Known GenesFBXL4, POU3F2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604253
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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