A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1893171



Internal ID17764901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65174318..65176497hg38UCSC Ensembl
Innerchr11:64941789..64943968hg19UCSC Ensembl
Innerchr11:64698365..64700544hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382180
hg192180
hg182180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975196
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)nssv1893171
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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