A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21768



Internal ID15489902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148458145..148459674hg38UCSC Ensembl
Outerchr1:148457059..148459976hg38UCSC Ensembl
Innerchr1:147930266..147931796hg19UCSC Ensembl
Outerchr1:147929180..147932104hg19UCSC Ensembl
Innerchr1:146396890..146398420hg18UCSC Ensembl
Outerchr1:146395804..146398728hg18UCSC Ensembl
Innerchr1:145045178..145046708hg17UCSC Ensembl
Outerchr1:145044092..145047016hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382918
hg192925
hg182925
hg172925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA18564
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)nssv21768
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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