A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983829



Internal ID18619021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56683454..56686355hg38UCSC Ensembl
Innerchr14:57150172..57153073hg19UCSC Ensembl
Innerchr14:56219925..56222826hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382902
hg192902
hg182902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988023, nssv1988016, nssv1988021, nssv1988024, nssv1988022, nssv1988019, nssv1988015, nssv1988020, nssv1988017, nssv1988018
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)nsv983829
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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