A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945927



Internal ID18592777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46843865..46852711hg38UCSC Ensembl
Innerchr1:47309537..47318383hg19UCSC Ensembl
Innerchr1:47082124..47090970hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg388847
hg198847
hg188847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1762850, nssv1762847, nssv1762848, nssv1762843, nssv1762842, nssv1762845, nssv1762846, nssv1762841, nssv1762844, nssv1762849
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP4Z2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945927
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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