A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946526



Internal ID18593376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179967192..179969520hg38UCSC Ensembl
Innerchr1:179936327..179938655hg19UCSC Ensembl
Innerchr1:178202950..178205278hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809255, nssv1809257, nssv1809258, nssv1809254, nssv1809253, nssv1809260, nssv1809261, nssv1809256, nssv1809252, nssv1809259
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEP350
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946526
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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