A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607614



Internal ID16048337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76799825hg38UCSC Ensembl
Innerchr7:76146001..76429142hg19UCSC Ensembl
Innerchr7:75983937..76267078hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38283142
hg19283142
hg18283142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11465n54
Supporting Variantsnssv1088460
Samples
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607614
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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