A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607517



Internal ID16048240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75979356..75987259hg38UCSC Ensembl
Innerchr7:75608674..75616577hg19UCSC Ensembl
Innerchr7:75446610..75454513hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387904
hg197904
hg187904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1087866
Samples
Known GenesPOR, TMEM120A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607517
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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