A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2667867



Internal ID17848745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94840554..94844001hg38UCSC Ensembl
Innerchr2:95506299..95509746hg19UCSC Ensembl
Innerchr2:94870026..94873473hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383448
hg193448
hg183448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961985
Supporting Variants
SamplesHGDP01029
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2667867
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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