A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978165



Internal ID18613370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70210109..70252212hg38UCSC Ensembl
Innerchr16:70244012..70286115hg19UCSC Ensembl
Innerchr16:68801513..68843616hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3842104
hg1942104
hg1842104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2066368, nssv2066370, nssv2066373, nssv2066364, nssv2066365, nssv2066366, nssv2066372, nssv2066371, nssv2066369, nssv2066367
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEXOSC6, LOC100506060
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978165
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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