A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969458



Internal ID18604685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151034411..151051553hg38UCSC Ensembl
Innerchr6:151355547..151372689hg19UCSC Ensembl
Innerchr6:151397240..151414382hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3817143
hg1917143
hg1817143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2427029, nssv2427035, nssv2427030, nssv2427037, nssv2427033, nssv2427032, nssv2427028, nssv2427031, nssv2427034, nssv2427036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTHFD1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969458
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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