A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27556



Internal ID15486038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37270258..37303745hg38UCSC Ensembl
Outerchr19:37230858..37305796hg38UCSC Ensembl
Innerchr19:37761160..37794647hg19UCSC Ensembl
Outerchr19:37721760..37796698hg19UCSC Ensembl
Innerchr19:42453000..42486487hg18UCSC Ensembl
Outerchr19:42413600..42488538hg18UCSC Ensembl
Innerchr19:42453000..42486487hg17UCSC Ensembl
Outerchr19:42413600..42488538hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3874939
hg1974939
hg1874939
hg1774939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9717
Supporting Variants
SamplesNA18502
Known GenesLOC284412, ZNF383
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)nssv27556
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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