A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1766979



Internal ID17415753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55222668..55229122hg38UCSC Ensembl
Innerchr1:55688341..55694795hg19UCSC Ensembl
Innerchr1:55460929..55467383hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386455
hg196455
hg186455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945962
Supporting Variants
SamplesHGDP00542
Known GenesMIR4422
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)nssv1766979
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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