A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2279183



Internal ID17887116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37789104..37790274hg38UCSC Ensembl
Innerchr3:37830595..37831765hg19UCSC Ensembl
Innerchr3:37805599..37806769hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381171
hg191171
hg181171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965158
Supporting Variants
SamplesHGDP01307
Known GenesITGA9
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)nssv2279183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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