A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446687



Internal ID17785301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48842206..48847622hg38UCSC Ensembl
Innerchr7:48881802..48887218hg19UCSC Ensembl
Innerchr7:48852348..48857764hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385417
hg195417
hg185417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981466
Supporting Variants
SamplesHGDP00665
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)nssv2446687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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