A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965238



Internal ID18600472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:181142199..181154218hg38UCSC Ensembl
Innerchr3:180859987..180872006hg19UCSC Ensembl
Innerchr3:182342681..182354700hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3812020
hg1912020
hg1812020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2306319, nssv2306318, nssv2306316, nssv2306317, nssv2306321, nssv2306320, nssv2306323, nssv2306322, nssv2306324, nssv2306315
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSOX2-OT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965238
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