A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960074



Internal ID18595327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19496993..19497610hg38UCSC Ensembl
Innerchr17:19400306..19400923hg19UCSC Ensembl
Innerchr17:19340898..19341515hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083364, nssv2083360, nssv2083359, nssv2083357, nssv2083362, nssv2083356, nssv2083355, nssv2083363, nssv2083361, nssv2083358
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960074
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