A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946389



Internal ID18593239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152015255..152023366hg38UCSC Ensembl
Innerchr1:151987731..151995842hg19UCSC Ensembl
Innerchr1:150254355..150262466hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg388112
hg198112
hg188112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1796942, nssv1796950, nssv1796945, nssv1796944, nssv1796941, nssv1796949, nssv1796947, nssv1796943, nssv1796946, nssv1796948
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNBPF18P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946389
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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