A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407165



Internal ID17812349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42883379..42889583hg38UCSC Ensembl
Innerchr6:42851117..42857321hg19UCSC Ensembl
Innerchr6:42959095..42965299hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386205
hg196205
hg186205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969394
Supporting Variants
SamplesHGDP00927
Known GenesRPL7L1
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)nssv2407165
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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