A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960052



Internal ID18595305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10410657..10412683hg38UCSC Ensembl
Innerchr17:10313974..10316000hg19UCSC Ensembl
Innerchr17:10254699..10256725hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382027
hg192027
hg182027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2075541, nssv2075544, nssv2075542, nssv2075545, nssv2075543, nssv2075549, nssv2075540, nssv2075548, nssv2075547, nssv2075546
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960052
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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