A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946611



Internal ID18246775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206155784..206206782hg38UCSC Ensembl
Innerchr1:206134548..206185546hg19UCSC Ensembl
Innerchr1:204301171..204352169hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850999
hg1950999
hg1850999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815339, nssv1815344, nssv1815338, nssv1815335, nssv1815342, nssv1815337, nssv1815340, nssv1815343, nssv1815336, nssv1815341
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM72A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946611
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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