A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2470160



Internal ID17740216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97200821..97201420hg38UCSC Ensembl
Innerchr7:96830133..96830732hg19UCSC Ensembl
Innerchr7:96668069..96668668hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981550
Supporting Variants
SamplesHGDP00456
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)nssv2470160
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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