A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977468



Internal ID18612674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55062618..55065059hg38UCSC Ensembl
Innerchr14:55529336..55531777hg19UCSC Ensembl
Innerchr14:54599089..54601530hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382442
hg192442
hg182442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988216, nssv1988220, nssv1988215, nssv1988214, nssv1988219, nssv1988223, nssv1988221, nssv1988218, nssv1988222, nssv1988217
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAPK1IP1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977468
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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