A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017911



Internal ID22079542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91776174..91849285hg38UCSC Ensembl
Outerchr1:91768996..91851016hg38UCSC Ensembl
Innerchr1:92241731..92314842hg19UCSC Ensembl
Outerchr1:92234553..92316573hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3882021
hg1982021
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156087
Supporting Variants
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4017911
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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