A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053301



Internal ID17733768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27132438..27135144hg38UCSC Ensembl
Innerchr16:27143759..27146465hg19UCSC Ensembl
Innerchr16:27051260..27053966hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382707
hg192707
hg182707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977943
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2053301
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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