A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977479



Internal ID18612685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67039431..67046715hg38UCSC Ensembl
Innerchr14:67506148..67513432hg19UCSC Ensembl
Innerchr14:66575901..66583185hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg387285
hg197285
hg187285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1989698, nssv1989701, nssv1989700, nssv1989702, nssv1989697, nssv1989699, nssv1989695, nssv1989703, nssv1989694, nssv1989696
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGPHN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977479
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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