A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2207789



Internal ID17489345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151576961..151609743hg38UCSC Ensembl
Innerchr2:152433475..152466257hg19UCSC Ensembl
Innerchr2:152141721..152174503hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3832783
hg1932783
hg1832783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963734
Supporting Variants
SamplesHGDP00998
Known GenesNEB
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)nssv2207789
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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