A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978353



Internal ID18266872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4704126..4705158hg38UCSC Ensembl
Innerchr17:4607421..4608453hg19UCSC Ensembl
Innerchr17:4554170..4555202hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381033
hg191033
hg181033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073682, nssv2073689, nssv2073686, nssv2073688, nssv2073690, nssv2073685, nssv2073687, nssv2073683, nssv2073681, nssv2073684
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101559451, PELP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978353
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