A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2186934



Internal ID17848524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95403429..95415505hg38UCSC Ensembl
Innerchr2:96069177..96081253hg19UCSC Ensembl
Innerchr2:95432904..95444980hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3812077
hg1912077
hg1812077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961449
Supporting Variants
SamplesHGDP01029
Known GenesFAHD2A
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)nssv2186934
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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