A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974088



Internal ID18609301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47763546..47767367hg38UCSC Ensembl
Innerchr13:48337681..48341502hg19UCSC Ensembl
Innerchr13:47235682..47239503hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383822
hg193822
hg183822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1960915, nssv1960916, nssv1960913, nssv1960908, nssv1960911, nssv1960909, nssv1960912, nssv1960914, nssv1960910, nssv1960917
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)nsv974088
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