A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974347



Internal ID18609558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64595519..64601539hg38UCSC Ensembl
Innerchr14:65062237..65068257hg19UCSC Ensembl
Innerchr14:64131990..64138010hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386021
hg196021
hg186021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1989557, nssv1989564, nssv1989558, nssv1989559, nssv1989565, nssv1989563, nssv1989562, nssv1989560, nssv1989566, nssv1989561
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)nsv974347
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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