A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1757765



Internal ID17778050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28095147..28096377hg38UCSC Ensembl
Innerchr1:28421658..28422888hg19UCSC Ensembl
Innerchr1:28294245..28295475hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381231
hg191231
hg181231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945853
Supporting Variants
SamplesHGDP00665
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)nssv1757765
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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