A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2042011



Internal ID17771121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3365238..3372782hg38UCSC Ensembl
Innerchr16:3415238..3422782hg19UCSC Ensembl
Innerchr16:3355239..3362783hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387545
hg197545
hg187545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974749
Supporting Variants
SamplesHGDP00542
Known GenesMTRNR2L4
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)nssv2042011
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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