A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945294



Internal ID18592145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219588695..219612984hg38UCSC Ensembl
Innerchr1:219762037..219786326hg19UCSC Ensembl
Innerchr1:217828660..217852949hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824290
hg1924290
hg1824290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818046, nssv1818051, nssv1818044, nssv1818050, nssv1818048, nssv1818047, nssv1818052, nssv1818053, nssv1818045, nssv1818049
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)nsv945294
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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