A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948172



Internal ID18595018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:102880619..102890654hg38UCSC Ensembl
Innerchr10:104640376..104650411hg19UCSC Ensembl
Innerchr10:104630366..104640401hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg3810036
hg1910036
hg1810036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1864491, nssv1864490, nssv1864489, nssv1864483, nssv1864484, nssv1864487, nssv1864488, nssv1864485, nssv1864482, nssv1864486
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAS3MT, C10orf32-ASMT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948172
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