A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011952



Internal ID22073583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45469907..45485606hg38UCSC Ensembl
Outerchr18:45469579..45488110hg38UCSC Ensembl
Innerchr18:43049872..43065571hg19UCSC Ensembl
Outerchr18:43049544..43068075hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3818532
hg1918532
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155512
Supporting Variants
Samples
Known GenesSLC14A2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011952
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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