A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977484



Internal ID18266004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68886208..68888550hg38UCSC Ensembl
Innerchr14:69352925..69355267hg19UCSC Ensembl
Innerchr14:68422678..68425020hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382343
hg192343
hg182343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1991177, nssv1991183, nssv1991180, nssv1991178, nssv1991182, nssv1991179, nssv1991176, nssv1991181, nssv1991175, nssv1991184
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977484
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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