A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964069



Internal ID18599307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80161213..80173470hg38UCSC Ensembl
Innerchr4:81082367..81094624hg19UCSC Ensembl
Innerchr4:81301391..81313648hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3812258
hg1912258
hg1812258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2326328, nssv2326336, nssv2326330, nssv2326335, nssv2326333, nssv2326331, nssv2326329, nssv2326334, nssv2326327, nssv2326332
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)nsv964069
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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