A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607590



Internal ID16048313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76502756..76516793hg38UCSC Ensembl
Innerchr7:76132073..76146110hg19UCSC Ensembl
Innerchr7:75970009..75984046hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3814038
hg1914038
hg1814038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11466n54
Supporting Variantsnssv1088029
Samples
Known GenesDTX2, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607590
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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