A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2211509



Internal ID17864930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171371262..171376155hg38UCSC Ensembl
Innerchr2:172227772..172232665hg19UCSC Ensembl
Innerchr2:171936018..171940911hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384894
hg194894
hg184894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979147
Supporting Variants
SamplesHGDP01284
Known GenesMETTL8
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)nssv2211509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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