A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945742



Internal ID18592593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1449940..1463300hg38UCSC Ensembl
Innerchr1:1385320..1398680hg19UCSC Ensembl
Innerchr1:1375183..1388543hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3813361
hg1913361
hg1813361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1750430, nssv1750424, nssv1750427, nssv1750421, nssv1750425, nssv1750420, nssv1750423, nssv1750422, nssv1750426, nssv1750428
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATAD3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945742
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