A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948085



Internal ID18248245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79630499..79715283hg38UCSC Ensembl
Innerchr10:81390255..81475039hg19UCSC Ensembl
Innerchr10:81060261..81145045hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3884785
hg1984785
hg1884785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1859560, nssv1859557, nssv1859551, nssv1859555, nssv1859552, nssv1859556, nssv1859558, nssv1859559, nssv1859554, nssv1859553
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBEND3P3, NUTM2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948085
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