A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977503



Internal ID18612709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98972905..98974117hg38UCSC Ensembl
Innerchr14:99439242..99440454hg19UCSC Ensembl
Innerchr14:98508995..98510207hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1996822, nssv1996823, nssv1996821, nssv1996824, nssv1996828, nssv1996826, nssv1996819, nssv1996827, nssv1996825, nssv1996820
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)nsv977503
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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