A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946585



Internal ID18593435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202605451..202618314hg38UCSC Ensembl
Innerchr1:202574579..202587442hg19UCSC Ensembl
Innerchr1:200841202..200854065hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812864
hg1912864
hg1812864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814208, nssv1814202, nssv1814203, nssv1814207, nssv1814205, nssv1814204, nssv1814209, nssv1814206, nssv1814210, nssv1814201
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSYT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946585
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