A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977469



Internal ID18612675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55229299..55229799hg38UCSC Ensembl
Innerchr14:55696017..55696517hg19UCSC Ensembl
Innerchr14:54765770..54766270hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1987007, nssv1987010, nssv1987005, nssv1987002, nssv1987006, nssv1987004, nssv1987008, nssv1987009, nssv1987011, nssv1987003
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977469
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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