A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1876421



Internal ID17829513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:9428801..9431043hg38UCSC Ensembl
Innerchr11:9450348..9452590hg19UCSC Ensembl
Innerchr11:9406924..9409166hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382243
hg192243
hg182243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982982
Supporting Variants
SamplesHGDP00998
Known GenesIPO7, SNORA23
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)nssv1876421
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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