A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007594



Internal ID22069225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13627529..13633399hg38UCSC Ensembl
Outerchr2:13623549..13640422hg38UCSC Ensembl
Innerchr2:13767654..13773524hg19UCSC Ensembl
Outerchr2:13763674..13780547hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3816874
hg1916874
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155175
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007594
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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