A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2422220



Internal ID17852939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:128638275..128640301hg38UCSC Ensembl
Innerchr6:128959420..128961446hg19UCSC Ensembl
Innerchr6:129001113..129003139hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg382027
hg192027
hg182027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981183
Supporting Variants
SamplesHGDP01029
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)nssv2422220
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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