A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25431



Internal ID15493830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51706328..51717309hg38UCSC Ensembl
Outerchr19:51705202..51718489hg38UCSC Ensembl
Innerchr19:52209581..52220562hg19UCSC Ensembl
Outerchr19:52208455..52221742hg19UCSC Ensembl
Innerchr19:56901393..56912374hg18UCSC Ensembl
Outerchr19:56900267..56913554hg18UCSC Ensembl
Innerchr19:56901393..56912374hg17UCSC Ensembl
Outerchr19:56900267..56913554hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3813288
hg1913288
hg1813288
hg1713288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9742
Supporting Variants
SamplesNA18980
Known GenesHAS1
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)nssv25431
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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