A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2479740



Internal ID17742425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:138623100..138624447hg38UCSC Ensembl
Innerchr7:138307845..138309192hg19UCSC Ensembl
Innerchr7:137958385..137959732hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970584
Supporting Variants
SamplesHGDP00456
Known GenesSVOPL
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)nssv2479740
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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