A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2201596



Internal ID17881816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130039303..130117425hg38UCSC Ensembl
Innerchr2:130796876..130874998hg19UCSC Ensembl
Innerchr2:130513346..130591468hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3878123
hg1978123
hg1878123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961881
Supporting Variants
SamplesHGDP01307
Known GenesFAR2P1, POTEF
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)nssv2201596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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