A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2408045



Internal ID17880519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42955967..42961278hg38UCSC Ensembl
Innerchr6:42923705..42929016hg19UCSC Ensembl
Innerchr6:43031683..43036994hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385312
hg195312
hg185312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969395
Supporting Variants
SamplesHGDP01307
Known GenesGNMT
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)nssv2408045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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