A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998973



Internal ID16945239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18859292..18941091hg38UCSC Ensembl
Outerchr19:18970101..19051900hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3881800
hg1981800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952423
Supporting Variants
SamplesBILGI_BIOE
Known GenesCERS1, COPE, DDX49, GDF1, HOMER3, UPF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998973
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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