A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1759206



Internal ID17736500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33009986..33010919hg38UCSC Ensembl
Innerchr1:33475587..33476520hg19UCSC Ensembl
Innerchr1:33248174..33249107hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38934
hg19934
hg18934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945874
Supporting Variants
SamplesHGDP00456
Known GenesAK2
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)nssv1759206
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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