A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1762140



Internal ID17844688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45413862..45418395hg38UCSC Ensembl
Innerchr1:45879534..45884067hg19UCSC Ensembl
Innerchr1:45652121..45656654hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384534
hg194534
hg184534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945919
Supporting Variants
SamplesHGDP01029
Known GenesTESK2
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)nssv1762140
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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