A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007586



Internal ID22069217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5744074..5764258hg38UCSC Ensembl
Outerchr2:5741052..5768019hg38UCSC Ensembl
Innerchr2:5884206..5904390hg19UCSC Ensembl
Outerchr2:5881184..5908151hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3826968
hg1926968
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155140
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007586
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer