A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22088



Internal ID15483985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148506238..148578011hg38UCSC Ensembl
Outerchr1:148502266..148578318hg38UCSC Ensembl
Innerchr1:147978421..148016437hg19UCSC Ensembl
Outerchr1:147974783..148016747hg19UCSC Ensembl
Innerchr1:146445045..146483061hg18UCSC Ensembl
Outerchr1:146441407..146483371hg18UCSC Ensembl
Innerchr1:145093333..145131349hg17UCSC Ensembl
Outerchr1:145089695..145131659hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3876053
hg1941965
hg1841965
hg1741965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA12155
Known GenesNBPF10, 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)nssv22088
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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