A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2166643



Internal ID17803175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24018343..24020116hg38UCSC Ensembl
Innerchr2:24241213..24242986hg19UCSC Ensembl
Innerchr2:24094717..24096490hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381774
hg191774
hg181774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961020
Supporting Variants
SamplesHGDP00778
Known GenesMFSD2B
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)nssv2166643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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