A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945371



Internal ID18245446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231365816..231366427hg38UCSC Ensembl
Innerchr1:231501562..231502173hg19UCSC Ensembl
Innerchr1:229568185..229568796hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1824501, nssv1824498, nssv1824500, nssv1824495, nssv1824496, nssv1824502, nssv1824503, nssv1824497, nssv1824494, nssv1824499
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesEGLN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945371
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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