A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946294



Internal ID18246458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148228367..148234205hg38UCSC Ensembl
Innerchr1:146158812..146164650hg19UCSC Ensembl
Innerchr1:144870169..144876107hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385839
hg195839
hg185939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1790222, nssv1790216, nssv1790217, nssv1790220, nssv1790225, nssv1790218, nssv1790223, nssv1790221, nssv1790219, nssv1790224
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946294
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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