A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948048



Internal ID18594894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68631969..68634281hg38UCSC Ensembl
Innerchr10:70391726..70394038hg19UCSC Ensembl
Innerchr10:70061732..70064044hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg382313
hg192313
hg182313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1853066, nssv1853067, nssv1853062, nssv1853060, nssv1853059, nssv1853058, nssv1853065, nssv1853063, nssv1853064, nssv1853061
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTET1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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