A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1749764



Internal ID17876444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:634676..682530hg38UCSC Ensembl
Innerchr1:570056..617910hg19UCSC Ensembl
Innerchr1:559919..607773hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3847855
hg1947855
hg1847855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945726
Supporting Variants
SamplesHGDP01307
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)nssv1749764
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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