A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419933



Internal ID17879113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:108004166..108009874hg38UCSC Ensembl
Innerchr6:108325370..108331078hg19UCSC Ensembl
Innerchr6:108432063..108437771hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385709
hg195709
hg185709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969433
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2419933
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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