A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978052



Internal ID18266571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28772109..28773873hg38UCSC Ensembl
Innerchr16:28783430..28785194hg19UCSC Ensembl
Innerchr16:28690931..28692695hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381765
hg191765
hg181765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2636228, nssv2636225, nssv2636230, nssv2636226, nssv2636224, nssv2636222, nssv2636231, nssv2636229, nssv2636227, nssv2636223
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978052
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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