A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965219



Internal ID18600453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143502096..143504142hg38UCSC Ensembl
Innerchr3:143220938..143222984hg19UCSC Ensembl
Innerchr3:144703628..144705674hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg382047
hg192047
hg182047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2298287, nssv2298284, nssv2298288, nssv2298282, nssv2298286, nssv2298289, nssv2298285, nssv2298290, nssv2298291, nssv2298283
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC9A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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