A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945459



Internal ID18245624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248145216..248153397hg38UCSC Ensembl
Innerchr1:248308518..248316699hg19UCSC Ensembl
Innerchr1:246375141..246383322hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388182
hg198182
hg188182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1829676, nssv1829673, nssv1829670, nssv1829668, nssv1829675, nssv1829669, nssv1829672, nssv1829674, nssv1829671, nssv1829677
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOR2M5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945459
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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