A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984249



Internal ID18272751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1961824..1965429hg38UCSC Ensembl
Innerchr16:2011825..2015430hg19UCSC Ensembl
Innerchr16:1951826..1955431hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383606
hg193606
hg183606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2039977, nssv2039983, nssv2039976, nssv2039979, nssv2039981, nssv2039978, nssv2039982, nssv2039975, nssv2039980, nssv2039974
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNDUFB10, RPS2, SNHG9, SNORA10, SNORA64, SNORA78
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984249
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer