A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525320



Internal ID8419595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91770491..91772610hg38UCSC Ensembl
Innerchr1:92236048..92238167hg19UCSC Ensembl
Innerchr1:92008636..92010755hg18UCSC Ensembl
Innerchr1:91948069..91950188hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382120
hg192120
hg182120
hg172120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701430
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525320
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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