A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946191



Internal ID18593041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120074887..120154108hg38UCSC Ensembl
Innerchr1:120617494..120696675hg19UCSC Ensembl
Innerchr1:120419017..120498198hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3879222
hg1979182
hg1879182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786634, nssv1786631, nssv1786636, nssv1786632, nssv1786637, nssv1786629, nssv1786635, nssv1786638, nssv1786633, nssv1786630
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)nsv946191
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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