A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977995



Internal ID18613200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70366358..70370523hg38UCSC Ensembl
Innerchr16:70400261..70404426hg19UCSC Ensembl
Innerchr16:68957762..68961927hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384166
hg194166
hg184166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2066673, nssv2066671, nssv2066669, nssv2066672, nssv2066665, nssv2066670, nssv2066668, nssv2066674, nssv2066666, nssv2066667
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX19A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977995
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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