A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446312



Internal ID17784463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45825162..45859806hg38UCSC Ensembl
Innerchr7:45864761..45899405hg19UCSC Ensembl
Innerchr7:45831286..45865930hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3834645
hg1934645
hg1834645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981465
Supporting Variants
SamplesHGDP00665
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)nssv2446312
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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