A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2100783



Internal ID17519382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48070238..48072353hg38UCSC Ensembl
Innerchr17:46147600..46149715hg19UCSC Ensembl
Innerchr17:43502599..43504714hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382116
hg192116
hg182116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962336
Supporting Variants
SamplesHGDP01284
Known GenesCBX1
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)nssv2100783
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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