A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2217859



Internal ID17885914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202611974..202620750hg38UCSC Ensembl
Innerchr2:203476697..203485473hg19UCSC Ensembl
Innerchr2:203184942..203193718hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388777
hg198777
hg188777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963761
Supporting Variants
SamplesHGDP01307
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)nssv2217859
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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