A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945329



Internal ID18245517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225937146..225937788hg38UCSC Ensembl
Innerchr1:226124846..226125488hg19UCSC Ensembl
Innerchr1:224191469..224192111hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38643
hg19643
hg18643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820213, nssv1820215, nssv1820218, nssv1820216, nssv1820220, nssv1820217, nssv1820219, nssv1820212, nssv1820211, nssv1820214
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLEFTY2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945329
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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