A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1759301



Internal ID17827753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33501159..33502205hg38UCSC Ensembl
Innerchr1:33966759..33967805hg19UCSC Ensembl
Innerchr1:33739346..33740392hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381047
hg191047
hg181047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv945875
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1759301
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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