A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2214941



Internal ID17865204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197015055..197016142hg38UCSC Ensembl
Innerchr2:197879779..197880866hg19UCSC Ensembl
Innerchr2:197588024..197589111hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961545
Supporting Variants
SamplesHGDP01284
Known GenesANKRD44
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)nssv2214941
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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