A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21758



Internal ID15483927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148457059..148468538hg38UCSC Ensembl
Outerchr1:148456837..148469333hg38UCSC Ensembl
Innerchr1:147929180..147940639hg19UCSC Ensembl
Outerchr1:147928958..147941434hg19UCSC Ensembl
Innerchr1:146395804..146407263hg18UCSC Ensembl
Outerchr1:146395582..146408058hg18UCSC Ensembl
Innerchr1:145044092..145055551hg17UCSC Ensembl
Outerchr1:145043870..145056346hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3812497
hg1912477
hg1812477
hg1712477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA12155
Known GenesLINC01138, NBPF10, NBPF8
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)nssv21758
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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