A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2290075



Internal ID17803503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93910344..93922959hg38UCSC Ensembl
Innerchr3:93629188..93641803hg19UCSC Ensembl
Innerchr3:95111878..95124493hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg3812616
hg1912616
hg1812616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979856
Supporting Variants
SamplesHGDP00778
Known GenesPROS1
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)nssv2290075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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