A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22795



Internal ID15495573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20888663..20954146hg38UCSC Ensembl
Outerchr14:20888045..20954481hg38UCSC Ensembl
Innerchr14:21356822..21422305hg19UCSC Ensembl
Outerchr14:21356204..21422640hg19UCSC Ensembl
Innerchr14:20426662..20492145hg18UCSC Ensembl
Outerchr14:20426044..20492480hg18UCSC Ensembl
Innerchr14:20426662..20492145hg17UCSC Ensembl
Outerchr14:20426044..20492480hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3866437
hg1966437
hg1866437
hg1766437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9121
Supporting Variants
SamplesNA19144
Known GenesECRP, RNASE3
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)nssv22795
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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