A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2408146



Internal ID17526007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43308759..43313415hg38UCSC Ensembl
Innerchr6:43276497..43281153hg19UCSC Ensembl
Innerchr6:43384475..43389131hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384657
hg194657
hg184657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970114
Supporting Variants
SamplesHGDP01284
Known GenesCRIP3
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)nssv2408146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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