A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2198468



Internal ID17785266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112621823..112623906hg38UCSC Ensembl
Innerchr2:113379400..113381483hg19UCSC Ensembl
Innerchr2:113095871..113097954hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382084
hg192084
hg182084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963705
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)nssv2198468
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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