A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965217



Internal ID18600451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141465424..141471461hg38UCSC Ensembl
Innerchr3:141184266..141190303hg19UCSC Ensembl
Innerchr3:142666956..142672993hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg386038
hg196038
hg186038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2297164, nssv2297168, nssv2297167, nssv2297169, nssv2297162, nssv2297161, nssv2297163, nssv2297160, nssv2297166, nssv2297165
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965217
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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