A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2173030



Internal ID17765955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64662047..64666852hg38UCSC Ensembl
Innerchr2:64889181..64893986hg19UCSC Ensembl
Innerchr2:64742685..64747490hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384806
hg194806
hg184806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963241
Supporting Variants
SamplesHGDP00542
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)nssv2173030
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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