A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984283



Internal ID18272785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18581957..18592750hg38UCSC Ensembl
Innerchr16:18593279..18604072hg19UCSC Ensembl
Innerchr16:18500780..18511573hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3810794
hg1910794
hg1810794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2049096, nssv2049093, nssv2049094, nssv2049095, nssv2048295, nssv2049092, nssv2048296, nssv2048297, nssv2048298, nssv2048299
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABCC6P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984283
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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