A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960434



Internal ID18595685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19148397..19151480hg38UCSC Ensembl
Innerchr17:19051710..19054793hg19UCSC Ensembl
Innerchr17:18992435..18995518hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383084
hg193084
hg183084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083232, nssv2083234, nssv2083231, nssv2083236, nssv2083227, nssv2083233, nssv2083235, nssv2083229, nssv2083228, nssv2083230
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGRAPL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960434
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