A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2427111



Internal ID17835962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151098642..151100707hg38UCSC Ensembl
Innerchr6:151419778..151421843hg19UCSC Ensembl
Innerchr6:151461471..151463536hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382066
hg192066
hg182066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965779
Supporting Variants
SamplesHGDP00998
Known GenesMTHFD1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2427111
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer