A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2297330



Internal ID17769845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137865126..137882384hg38UCSC Ensembl
Innerchr3:137583968..137601226hg19UCSC Ensembl
Innerchr3:139066658..139083916hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3817259
hg1917259
hg1817259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963363
Supporting Variants
SamplesHGDP00542
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)nssv2297330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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