A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21408



Internal ID15836530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148384948..148387761hg38UCSC Ensembl
Outerchr1:148384374..148388392hg38UCSC Ensembl
Innerchr1:147857104..147859913hg19UCSC Ensembl
Outerchr1:147856530..147860544hg19UCSC Ensembl
Innerchr1:146323728..146326537hg18UCSC Ensembl
Outerchr1:146323154..146327168hg18UCSC Ensembl
Innerchr1:144972016..144974825hg17UCSC Ensembl
Outerchr1:144971442..144975456hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384019
hg194015
hg184015
hg174015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8214
Supporting Variants
SamplesNA18564
Known GenesMIR6077-1, MIR6077-2, 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)nssv21408
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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