A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2218552



Internal ID17837565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203190611..203191647hg38UCSC Ensembl
Innerchr2:204055334..204056370hg19UCSC Ensembl
Innerchr2:203763579..203764615hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381037
hg191037
hg181037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961555
Supporting Variants
SamplesHGDP00998
Known GenesNBEAL1
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)nssv2218552
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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