A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2065850



Internal ID17853636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69942408..69972156hg38UCSC Ensembl
Innerchr16:69976311..70006059hg19UCSC Ensembl
Innerchr16:68533812..68563560hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3829749
hg1929749
hg1829749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974827
Supporting Variants
SamplesHGDP01029
Known GenesCLEC18A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2065850
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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