A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2425407



Internal ID17776512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:137995232..138000809hg38UCSC Ensembl
Innerchr6:138316369..138321946hg19UCSC Ensembl
Innerchr6:138358062..138363639hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg385578
hg195578
hg185578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970169
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)nssv2425407
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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