A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2056434



Internal ID17818126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32081828..32240547hg38UCSC Ensembl
Innerchr16:32093149..32251868hg19UCSC Ensembl
Innerchr16:32000650..32159369hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38158720
hg19158720
hg18158720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984313
Supporting Variants
SamplesHGDP00927
Known GenesHERC2P4
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)nssv2056434
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