A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1894896



Internal ID17846766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74977033..74979386hg38UCSC Ensembl
Innerchr11:74688078..74690431hg19UCSC Ensembl
Innerchr11:74365726..74368079hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382354
hg192354
hg182354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972047
Supporting Variants
SamplesHGDP01029
Known GenesSPCS2
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)nssv1894896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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