A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2279092



Internal ID17770841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37746917..37749660hg38UCSC Ensembl
Innerchr3:37788408..37791151hg19UCSC Ensembl
Innerchr3:37763412..37766155hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg382744
hg192744
hg182744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979820
Supporting Variants
SamplesHGDP00542
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)nssv2279092
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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