A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21970



Internal ID15485296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35365367..35370611hg38UCSC Ensembl
Outerchr19:35363890..35371098hg38UCSC Ensembl
Innerchr19:35856269..35861513hg19UCSC Ensembl
Outerchr19:35854792..35862000hg19UCSC Ensembl
Innerchr19:40548109..40553353hg18UCSC Ensembl
Outerchr19:40546632..40553840hg18UCSC Ensembl
Innerchr19:40548109..40553353hg17UCSC Ensembl
Outerchr19:40546632..40553840hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg387209
hg197209
hg187209
hg177209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9712
Supporting Variants
SamplesNA12802
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv21970
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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