A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963360



Internal ID18598601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123706434..123709509hg38UCSC Ensembl
Innerchr3:123425281..123428356hg19UCSC Ensembl
Innerchr3:124907971..124911046hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg383076
hg193076
hg183076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2296161, nssv2296165, nssv2296163, nssv2296168, nssv2296162, nssv2296164, nssv2296167, nssv2296166, nssv2296169, nssv2296170
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYLK
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963360
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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