A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966997



Internal ID18602226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25440128..25441382hg38UCSC Ensembl
Innerchr3:25481619..25482873hg19UCSC Ensembl
Innerchr3:25456623..25457877hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg381255
hg191255
hg181255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2275212, nssv2275221, nssv2275215, nssv2275218, nssv2275214, nssv2275213, nssv2275219, nssv2275220, nssv2275216, nssv2275217
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRARB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966997
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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