A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946553



Internal ID18593403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194187573..194190297hg38UCSC Ensembl
Innerchr1:194156703..194159427hg19UCSC Ensembl
Innerchr1:192423326..192426050hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382725
hg192725
hg182725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810899, nssv1810901, nssv1810900, nssv1810903, nssv1810905, nssv1810902, nssv1810906, nssv1810904, nssv1810898, nssv1810897
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)nsv946553
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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