A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2222416



Internal ID17805639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225760332..225763675hg38UCSC Ensembl
Innerchr2:226625048..226628391hg19UCSC Ensembl
Innerchr2:226333292..226336635hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383344
hg193344
hg183344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961568
Supporting Variants
SamplesHGDP00778
Known GenesMIR548AR
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)nssv2222416
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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