A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4015232



Internal ID22076863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40500507..40503992hg38UCSC Ensembl
Outerchr1:40497632..40509127hg38UCSC Ensembl
Innerchr1:40966179..40969664hg19UCSC Ensembl
Outerchr1:40963304..40974799hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3811496
hg1911496
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155818
Supporting Variants
Samples
Known GenesEXO5
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4015232
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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