A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946186



Internal ID18246350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119548804..119619164hg38UCSC Ensembl
Innerchr1:120091427..120161787hg19UCSC Ensembl
Innerchr1:119892950..119963310hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3870361
hg1970361
hg1870361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786240, nssv1786241, nssv1786237, nssv1786244, nssv1786238, nssv1786245, nssv1786243, nssv1786236, nssv1786239, nssv1786242
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD3BP4, LINC00622
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946186
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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