A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946460



Internal ID18593310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161359490..161363014hg38UCSC Ensembl
Innerchr1:161329280..161332804hg19UCSC Ensembl
Innerchr1:159595904..159599428hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383525
hg193525
hg183525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802743, nssv1802741, nssv1802748, nssv1802742, nssv1802745, nssv1802746, nssv1802744, nssv1802740, nssv1802747, nssv1802739
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSDHC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946460
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