A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960404



Internal ID18595655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8560115..8561813hg38UCSC Ensembl
Innerchr17:8463433..8465131hg19UCSC Ensembl
Innerchr17:8404158..8405856hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2075683, nssv2075681, nssv2075684, nssv2075679, nssv2075675, nssv2075676, nssv2075680, nssv2075682, nssv2075678, nssv2075677
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960404
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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