A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983848



Internal ID18272354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88699249..88700790hg38UCSC Ensembl
Innerchr14:89165593..89167134hg19UCSC Ensembl
Innerchr14:88235346..88236887hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1993931, nssv1993934, nssv1993933, nssv1993932, nssv1993937, nssv1993929, nssv1993936, nssv1993930, nssv1993935, nssv1993928
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEML5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983848
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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