A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1818412



Internal ID17760687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211660206..211662861hg38UCSC Ensembl
Innerchr1:211833548..211836203hg19UCSC Ensembl
Innerchr1:209900171..209902826hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382656
hg192656
hg182656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945280
Supporting Variants
SamplesHGDP00542
Known GenesNEK2
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)nssv1818412
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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