A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946492



Internal ID18246656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168449909..168450627hg38UCSC Ensembl
Innerchr1:168419147..168419865hg19UCSC Ensembl
Innerchr1:166685771..166686489hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38719
hg19719
hg18719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806291, nssv1806284, nssv1806290, nssv1806288, nssv1806285, nssv1806289, nssv1806286, nssv1806283, nssv1806282, nssv1806287
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)nsv946492
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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