A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978361



Internal ID18613566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10495276..10496314hg38UCSC Ensembl
Innerchr17:10398593..10399631hg19UCSC Ensembl
Innerchr17:10339318..10340356hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2076365, nssv2076363, nssv2076357, nssv2076358, nssv2076361, nssv2076356, nssv2076359, nssv2076360, nssv2076364, nssv2076362
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978361
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer