A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27588



Internal ID15486084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51688748..51701468hg38UCSC Ensembl
Outerchr19:51687861..51702219hg38UCSC Ensembl
Innerchr19:52192001..52204721hg19UCSC Ensembl
Outerchr19:52191114..52205472hg19UCSC Ensembl
Innerchr19:56883813..56896533hg18UCSC Ensembl
Outerchr19:56882926..56897284hg18UCSC Ensembl
Innerchr19:56883813..56896533hg17UCSC Ensembl
Outerchr19:56882926..56897284hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3814359
hg1914359
hg1814359
hg1714359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9742
Supporting Variants
SamplesNA18502
Known GenesMIR125A, MIR99B, MIRLET7E, SPACA6P, SPACA6P-AS
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)nssv27588
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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