A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948230



Internal ID18248390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:131099433..131106477hg38UCSC Ensembl
Innerchr10:132897696..132904740hg19UCSC Ensembl
Innerchr10:132787686..132794730hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg387045
hg197045
hg187045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1871140, nssv1871148, nssv1871146, nssv1871147, nssv1871149, nssv1871145, nssv1871142, nssv1871144, nssv1871143, nssv1871141
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTCERG1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948230
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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