A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472198



Internal ID17539357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101203715..101208789hg38UCSC Ensembl
Innerchr7:100846996..100852070hg19UCSC Ensembl
Innerchr7:100633716..100638790hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385075
hg195075
hg185075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970915
Supporting Variants
SamplesHGDP01307
Known GenesPLOD3
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)nssv2472198
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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