A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823766



Internal ID17876492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234792709..234820683hg38UCSC Ensembl
Innerchr1:234928456..234956430hg19UCSC Ensembl
Innerchr1:232995079..233023053hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3827975
hg1927975
hg1827975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945377
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1823766
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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