A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945910



Internal ID18592760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43743456..43744045hg38UCSC Ensembl
Innerchr1:44209127..44209716hg19UCSC Ensembl
Innerchr1:43981714..43982303hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761873, nssv1761872, nssv1761881, nssv1761879, nssv1761878, nssv1761875, nssv1761877, nssv1761880, nssv1761876, nssv1761874
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesST3GAL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945910
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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