A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2427033



Internal ID17737827
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 Flag1
Merged StatusS
Merged Variantsnsv969458
Supporting Variants
SamplesHGDP00456
Known GenesMTHFD1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2427033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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