A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2043201



Internal ID17881782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12880971..12881573hg38UCSC Ensembl
Innerchr16:12974828..12975430hg19UCSC Ensembl
Innerchr16:12882329..12882931hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38603
hg19603
hg18603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984260
Supporting Variants
SamplesHGDP01307
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)nssv2043201
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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