A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2071238



Internal ID17748802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90083106..90097467hg38UCSC Ensembl
Innerchr16:90149514..90163875hg19UCSC Ensembl
Innerchr16:88677015..88691376hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3814362
hg1914362
hg1814362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984367
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2071238
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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