A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977112



Internal ID18265632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14200316..14202219hg38UCSC Ensembl
Innerchr16:14294173..14296076hg19UCSC Ensembl
Innerchr16:14201674..14203577hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381904
hg191904
hg181904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2043932, nssv2043931, nssv2043927, nssv2043923, nssv2043925, nssv2043929, nssv2043928, nssv2043924, nssv2043926, nssv2043930
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMKL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977112
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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