A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21753



Internal ID15827736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150023972..150024111hg38UCSC Ensembl
Outerchr1:150023059..150024730hg38UCSC Ensembl
Innerchr1:149995930..149996069hg19UCSC Ensembl
Outerchr1:149995017..149996688hg19UCSC Ensembl
Innerchr1:148262554..148262693hg18UCSC Ensembl
Outerchr1:148261641..148263312hg18UCSC Ensembl
Innerchr1:146809003..146809142hg17UCSC Ensembl
Outerchr1:146808090..146809761hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381672
hg191672
hg181672
hg171672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8369
Supporting Variants
SamplesNA07048
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)nssv21753
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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