A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23058



Internal ID15480741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149678285..149689100hg38UCSC Ensembl
Outerchr1:149677840..149693175hg38UCSC Ensembl
Innerchr1:149649870..149660689hg19UCSC Ensembl
Outerchr1:149649426..149664726hg19UCSC Ensembl
Innerchr1:147916494..147927313hg18UCSC Ensembl
Outerchr1:147916050..147931350hg18UCSC Ensembl
Innerchr1:146462943..146473762hg17UCSC Ensembl
Outerchr1:146462499..146477799hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3815336
hg1915301
hg1815301
hg1715301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8336
Supporting Variants
SamplesNA07029
Known GenesLINC00869
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)nssv23058
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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