A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2246752



Internal ID17866290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36131226..36134208hg38UCSC Ensembl
Innerchr21:37503524..37506506hg19UCSC Ensembl
Innerchr21:36425394..36428376hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg382983
hg192983
hg182983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979535
Supporting Variants
SamplesHGDP01284
Known GenesCBR3-AS1
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)nssv2246752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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