A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288299



Internal ID17469598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111569595..111571067hg38UCSC Ensembl
Innerchr3:111288442..111289914hg19UCSC Ensembl
Innerchr3:112771132..112772604hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965196
Supporting Variants
SamplesHGDP00927
Known GenesCD96
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)nssv2288299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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