A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412



Internal ID15833085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21411727..21472855hg38UCSC Ensembl
Outerchr1:21411250..21473702hg38UCSC Ensembl
Innerchr1:21738220..21799348hg19UCSC Ensembl
Outerchr1:21737743..21800195hg19UCSC Ensembl
Innerchr1:21610807..21671935hg18UCSC Ensembl
Outerchr1:21610330..21672782hg18UCSC Ensembl
Innerchr1:21483526..21544654hg17UCSC Ensembl
Outerchr1:21483049..21545501hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3862453
hg1962453
hg1862453
hg1762453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9435
Supporting Variants
SamplesNA18502
Known GenesNBPF3
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)nssv14412
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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