A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978389



Internal ID18613594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20388201..20586214hg38UCSC Ensembl
Innerchr17:20291514..20489527hg19UCSC Ensembl
Innerchr17:20232106..20430119hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38198014
hg19198014
hg18198014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083930, nssv2083928, nssv2083926, nssv2083925, nssv2083924, nssv2083927, nssv2083929, nssv2083931, nssv2083923, nssv2083922
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144CP, CDRT15L2, KRT16P3, LGALS9B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978389
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