A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607978



Internal ID16048701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101217932..101328323hg38UCSC Ensembl
Innerchr7:100861213..100971604hg19UCSC Ensembl
Innerchr7:100647933..100758324hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38110392
hg19110392
hg18110392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1091889
Samples
Known GenesCLDN15, FIS1, RABL5, ZNHIT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607978
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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