A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463077



Internal ID17438093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74876145..74916326hg38UCSC Ensembl
Innerchr7:74292239..74332414hg19UCSC Ensembl
Innerchr7:73930175..73970350hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3840182
hg1940176
hg1840176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981528
Supporting Variants
SamplesHGDP00665
Known GenesPMS2P5, STAG3L2
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)nssv2463077
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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