A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1763741



Internal ID17464994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47496000..47500732hg38UCSC Ensembl
Innerchr1:47961672..47966404hg19UCSC Ensembl
Innerchr1:47734259..47738991hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384733
hg194733
hg184733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945930
Supporting Variants
SamplesHGDP00927
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)nssv1763741
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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