A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2062437



Internal ID17772129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:52651343..52657169hg38UCSC Ensembl
Innerchr16:52685255..52691081hg19UCSC Ensembl
Innerchr16:51242756..51248582hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385827
hg195827
hg185827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984336
Supporting Variants
SamplesHGDP00542
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)nssv2062437
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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