A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053538



Internal ID17423859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29035478..29108105hg38UCSC Ensembl
Innerchr16:29046799..29119426hg19UCSC Ensembl
Innerchr16:28954300..29026927hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3872628
hg1972628
hg1872628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984302
Supporting Variants
SamplesHGDP00542
Known GenesRRN3P2
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)nssv2053538
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer