A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945314



Internal ID18592165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223888517..223940997hg38UCSC Ensembl
Innerchr1:224076219..224128699hg19UCSC Ensembl
Innerchr1:222142842..222195322hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3852481
hg1952481
hg1852481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1821109, nssv1821108, nssv1821114, nssv1821111, nssv1821115, nssv1821106, nssv1821110, nssv1821113, nssv1821112, nssv1821107
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945314
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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