A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977994



Internal ID18266513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70329516..70333591hg38UCSC Ensembl
Innerchr16:70363419..70367494hg19UCSC Ensembl
Innerchr16:68920920..68924995hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384076
hg194076
hg184076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2066572, nssv2066573, nssv2066568, nssv2066571, nssv2066577, nssv2066570, nssv2066569, nssv2066574, nssv2066576, nssv2066575
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX19B, LOC100506083
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977994
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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