A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946570



Internal ID18593420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198948701..198950291hg38UCSC Ensembl
Innerchr1:198917830..198919420hg19UCSC Ensembl
Innerchr1:197184453..197186043hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1812179, nssv1812186, nssv1812178, nssv1812181, nssv1812182, nssv1812180, nssv1812185, nssv1812183, nssv1812187, nssv1812184
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)nsv946570
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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