A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946550



Internal ID18593400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192713210..192722313hg38UCSC Ensembl
Innerchr1:192682340..192691443hg19UCSC Ensembl
Innerchr1:190948963..190958066hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg389104
hg199104
hg189104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809078, nssv1809070, nssv1809077, nssv1809071, nssv1809073, nssv1809075, nssv1809079, nssv1809074, nssv1809076, nssv1809072
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946550
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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