A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2473749



Internal ID17812189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103210545..103284387hg38UCSC Ensembl
Innerchr7:102850992..102924834hg19UCSC Ensembl
Innerchr7:102638228..102712070hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3873843
hg1973843
hg1873843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981567
Supporting Variants
SamplesHGDP00927
Known GenesDPY19L2P2
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)nssv2473749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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