A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984301



Internal ID18272803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28738879..28773873hg38UCSC Ensembl
Innerchr16:28750200..28785194hg19UCSC Ensembl
Innerchr16:28657701..28692695hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3834995
hg1934995
hg1834995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053389, nssv2053394, nssv2053393, nssv2053390, nssv2053392, nssv2053391, nssv2053395, nssv2053387, nssv2053396, nssv2053388
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984301
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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