A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981196



Internal ID18616395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150934878..150935969hg38UCSC Ensembl
Innerchr6:151256014..151257105hg19UCSC Ensembl
Innerchr6:151297707..151298798hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2428775, nssv2428776, nssv2428777, nssv2428773, nssv2428772, nssv2428774, nssv2428768, nssv2428770, nssv2428771, nssv2428769
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)nsv981196
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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