A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960824



Internal ID18249385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32952562..32953710hg38UCSC Ensembl
Innerchr19:33443468..33444616hg19UCSC Ensembl
Innerchr19:38135308..38136456hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2143361, nssv2143362, nssv2143356, nssv2143359, nssv2143360, nssv2143363, nssv2143364, nssv2143357, nssv2143365, nssv2143358
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEP89
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960824
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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