A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945293



Internal ID18592144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218338454..218338954hg38UCSC Ensembl
Innerchr1:218511796..218512296hg19UCSC Ensembl
Innerchr1:216578419..216578919hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817951, nssv1817023, nssv1817952, nssv1817948, nssv1817954, nssv1817950, nssv1817956, nssv1817953, nssv1817949, nssv1817955
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)nsv945293
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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