A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1896802



Internal ID17868424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:83207823..83210107hg38UCSC Ensembl
Innerchr11:82918865..82921149hg19UCSC Ensembl
Innerchr11:82596513..82598797hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg382285
hg192285
hg182285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972050
Supporting Variants
SamplesHGDP01284
Known GenesANKRD42
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)nssv1896802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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