A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976370



Internal ID18264890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101967297..101969454hg38UCSC Ensembl
Innerchr14:102433634..102435791hg19UCSC Ensembl
Innerchr14:101503387..101505544hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382158
hg192158
hg182158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1997584, nssv1997578, nssv1997586, nssv1997585, nssv1997580, nssv1997582, nssv1997577, nssv1997583, nssv1997579, nssv1997581
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDYNC1H1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976370
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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