A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1805439



Internal ID17748302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168202138..168216830hg38UCSC Ensembl
Innerchr1:168171376..168186068hg19UCSC Ensembl
Innerchr1:166438000..166452692hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3814693
hg1914693
hg1814693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946489
Supporting Variants
SamplesHGDP00521
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)nssv1805439
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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