A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948069



Internal ID18594915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73714013..73716823hg38UCSC Ensembl
Innerchr10:75473771..75476581hg19UCSC Ensembl
Innerchr10:75143777..75146587hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg382811
hg192811
hg182811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1858067, nssv1858060, nssv1858065, nssv1858058, nssv1858062, nssv1858066, nssv1858059, nssv1858064, nssv1858063, nssv1858061
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBMS1P4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948069
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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