A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946539



Internal ID18246703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184823886..184825703hg38UCSC Ensembl
Innerchr1:184793020..184794837hg19UCSC Ensembl
Innerchr1:183059643..183061460hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381818
hg191818
hg181818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811137, nssv1809389, nssv1811135, nssv1811131, nssv1811138, nssv1811132, nssv1811133, nssv1809390, nssv1811134, nssv1811136
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM129A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946539
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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