A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4014525



Internal ID22076156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137522011..137998610hg38UCSC Ensembl
Outerchr2:137517256..138004486hg38UCSC Ensembl
Innerchr2:138279581..138756180hg19UCSC Ensembl
Outerchr2:138274826..138762056hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38487231
hg19487231
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155875
Supporting Variants
Samples
Known GenesHNMT, THSD7B
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4014525
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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