A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946152



Internal ID18593002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113509062..113509879hg38UCSC Ensembl
Innerchr1:114051684..114052501hg19UCSC Ensembl
Innerchr1:113853207..113854024hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38818
hg19818
hg18818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782798, nssv1782794, nssv1782800, nssv1782799, nssv1782793, nssv1782795, nssv1782796, nssv1782792, nssv1782797, nssv1782791
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)nsv946152
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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