A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946459



Internal ID18593309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160895075..160900346hg38UCSC Ensembl
Innerchr1:160864865..160870136hg19UCSC Ensembl
Innerchr1:159131489..159136760hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg385272
hg195272
hg185272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802649, nssv1802643, nssv1802651, nssv1802642, nssv1802644, nssv1802646, nssv1802647, nssv1802645, nssv1802650, nssv1802648
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946459
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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