A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977472



Internal ID18612678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57207222..57208909hg38UCSC Ensembl
Innerchr14:57673940..57675627hg19UCSC Ensembl
Innerchr14:56743693..56745380hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381688
hg191688
hg181688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1987699, nssv1987695, nssv1987691, nssv1987697, nssv1987694, nssv1987692, nssv1987696, nssv1987700, nssv1987693, nssv1987698
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEXOC5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977472
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer