A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070236



Internal ID17837441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81474824..81476986hg38UCSC Ensembl
Innerchr16:81508429..81510591hg19UCSC Ensembl
Innerchr16:80065930..80068092hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382163
hg192163
hg182163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978171
Supporting Variants
SamplesHGDP00998
Known GenesCMIP
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)nssv2070236
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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