A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945399



Internal ID18592250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240914272..240923750hg38UCSC Ensembl
Innerchr1:241077572..241087050hg19UCSC Ensembl
Innerchr1:239144195..239153673hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg389479
hg199479
hg189479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825934, nssv1825930, nssv1825935, nssv1825931, nssv1825932, nssv1825929, nssv1825938, nssv1825936, nssv1825937, nssv1825933
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRGS7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945399
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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