A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974104



Internal ID18609317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76987478..76990515hg38UCSC Ensembl
Innerchr13:77561613..77564650hg19UCSC Ensembl
Innerchr13:76459614..76462651hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383038
hg193038
hg183038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1970390, nssv1970391, nssv1970393, nssv1970392, nssv1970384, nssv1970387, nssv1970385, nssv1970386, nssv1970388, nssv1970389
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)nsv974104
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