A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946541



Internal ID18246705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185736431..185737882hg38UCSC Ensembl
Innerchr1:185705563..185707014hg19UCSC Ensembl
Innerchr1:183972186..183973637hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810478, nssv1810480, nssv1810482, nssv1810481, nssv1810486, nssv1810485, nssv1810483, nssv1810479, nssv1810477, nssv1810484
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHMCN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946541
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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