A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1814302



Internal ID17867696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202627524..202637634hg38UCSC Ensembl
Innerchr1:202596652..202606762hg19UCSC Ensembl
Innerchr1:200863275..200873385hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3810111
hg1910111
hg1810111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946586
Supporting Variants
SamplesHGDP01284
Known GenesSYT2
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)nssv1814302
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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