A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960411



Internal ID18248976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10634897..10635521hg38UCSC Ensembl
Innerchr17:10538214..10538838hg19UCSC Ensembl
Innerchr17:10478939..10479563hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38625
hg19625
hg18625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2077552, nssv2077559, nssv2077554, nssv2077553, nssv2077558, nssv2077557, nssv2077555, nssv2077550, nssv2077556, nssv2077551
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960411
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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