A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2208604



Internal ID17441028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157877569..157880073hg38UCSC Ensembl
Innerchr2:158734081..158736585hg19UCSC Ensembl
Innerchr2:158442327..158444831hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg382505
hg192505
hg182505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979138
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2208604
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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