A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2451843



Internal ID17875804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61071607..61074642hg38UCSC Ensembl
Innerchr7:61054332..61057367hg19UCSC Ensembl
Innerchr7:61058085..61061309hg18UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg383036
hg193036
hg183225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966805
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2451843
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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