A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945976



Internal ID18246140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63788844..63789922hg38UCSC Ensembl
Innerchr1:64254515..64255593hg19UCSC Ensembl
Innerchr1:64027103..64028181hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381079
hg191079
hg181079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770412, nssv1770413, nssv1770418, nssv1769487, nssv1770414, nssv1770415, nssv1770416, nssv1770417, nssv1769485, nssv1769486
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesROR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945976
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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