A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974315



Internal ID18609526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23425338..23426796hg38UCSC Ensembl
Innerchr14:23894547..23896005hg19UCSC Ensembl
Innerchr14:22964387..22965845hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979298, nssv1979300, nssv1979304, nssv1979307, nssv1979306, nssv1979301, nssv1979299, nssv1979302, nssv1979303, nssv1979305
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974315
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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