A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962285



Internal ID18250843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19439106..19447286hg38UCSC Ensembl
Innerchr17:19342419..19350599hg19UCSC Ensembl
Innerchr17:19283011..19291191hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388181
hg198181
hg188181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2084303, nssv2084305, nssv2084301, nssv2084299, nssv2084306, nssv2084302, nssv2084300, nssv2084298, nssv2084304, nssv2084297
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)nsv962285
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