A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088447



Internal ID15594947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76518932hg38UCSC Ensembl
Innerchr7:76146001..76148249hg19UCSC Ensembl
Innerchr7:75983937..75986185hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382249
hg192249
hg182249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607607
Supporting Variants
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1088447
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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