A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220064



Internal ID17750666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214278890..214282404hg38UCSC Ensembl
Innerchr2:215143614..215147128hg19UCSC Ensembl
Innerchr2:214851859..214855373hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383515
hg193515
hg183515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961556
Supporting Variants
SamplesHGDP00521
Known GenesSPAG16
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)nssv2220064
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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