A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2435060



Internal ID17462930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4997130..5058937hg38UCSC Ensembl
Innerchr7:5036761..5098568hg19UCSC Ensembl
Innerchr7:5003287..5065094hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3861808
hg1961808
hg1861808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966749
Supporting Variants
SamplesHGDP00778
Known GenesRBAK, RBAK-RBAKDN, RNF216P1
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)nssv2435060
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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