A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2473939



Internal ID17432973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103347960..103349253hg38UCSC Ensembl
Innerchr7:102988407..102989700hg19UCSC Ensembl
Innerchr7:102775643..102776936hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381294
hg191294
hg181294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970926
Supporting Variants
SamplesHGDP00665
Known GenesPSMC2
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)nssv2473939
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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