A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2474720



Internal ID17814457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121397559..121401108hg38UCSC Ensembl
Innerchr7:121037613..121041162hg19UCSC Ensembl
Innerchr7:120824849..120828398hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg383550
hg193550
hg183550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966879
Supporting Variants
SamplesHGDP00927
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)nssv2474720
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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