A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983587



Internal ID18618780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51966767..51967267hg38UCSC Ensembl
Innerchr13:52540903..52541403hg19UCSC Ensembl
Innerchr13:51438904..51439404hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963837, nssv1963842, nssv1964372, nssv1963838, nssv1963841, nssv1963835, nssv1963836, nssv1963843, nssv1963840, nssv1963839
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATP7B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983587
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