A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946151



Internal ID18593001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113449233..113451239hg38UCSC Ensembl
Innerchr1:113991855..113993861hg19UCSC Ensembl
Innerchr1:113793378..113795384hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382007
hg192007
hg182007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782702, nssv1782696, nssv1782695, nssv1782700, nssv1782694, nssv1782698, nssv1782701, nssv1782699, nssv1782697, nssv1782703
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAGI3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946151
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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