A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945984



Internal ID18592834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65228446..65229878hg38UCSC Ensembl
Innerchr1:65694129..65695561hg19UCSC Ensembl
Innerchr1:65466717..65468149hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381433
hg191433
hg181433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771070, nssv1771073, nssv1771069, nssv1771071, nssv1771068, nssv1771077, nssv1771075, nssv1771072, nssv1771076, nssv1771074
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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