A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966296



Internal ID18254840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89730925..89733300hg38UCSC Ensembl
Innerchr4:90652076..90654451hg19UCSC Ensembl
Innerchr4:90871099..90873474hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382376
hg192376
hg182376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2327644, nssv2327647, nssv2327643, nssv2327638, nssv2327640, nssv2327639, nssv2327641, nssv2327645, nssv2327642, nssv2327646
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSNCA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966296
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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