A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798294



Internal ID17450935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149758306..149811551hg38UCSC Ensembl
Innerchr1:149729856..149783106hg19UCSC Ensembl
Innerchr1:147996480..148049730hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3853246
hg1953251
hg1853251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946376
Supporting Variants
SamplesHGDP00778
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1798294
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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