A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609053



Internal ID16049776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152336108..152462421hg38UCSC Ensembl
Innerchr7:152033193..152159506hg19UCSC Ensembl
Innerchr7:151664126..151790439hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38126314
hg19126314
hg18126314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11730n54
Supporting Variantsnssv1099601
Samples
Known GenesFABP5P3, KMT2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609053
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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