A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419732



Internal ID17805406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111046816..111047431hg38UCSC Ensembl
Innerchr6:111368019..111368634hg19UCSC Ensembl
Innerchr6:111474712..111475327hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38616
hg19616
hg18616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969435
Supporting Variants
SamplesHGDP00778
Known GenesGSTM2P1
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)nssv2419732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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