A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053202



Internal ID17838257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:26031622..26032913hg38UCSC Ensembl
Innerchr16:26042943..26044234hg19UCSC Ensembl
Innerchr16:25950444..25951735hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978120
Supporting Variants
SamplesHGDP00998
Known GenesHS3ST4
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)nssv2053202
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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