A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19095



Internal ID15488093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148513215..148518128hg38UCSC Ensembl
Outerchr1:148513054..148518482hg38UCSC Ensembl
Innerchr1:147985442..147990351hg19UCSC Ensembl
Outerchr1:147985281..147990705hg19UCSC Ensembl
Innerchr1:146452066..146456975hg18UCSC Ensembl
Outerchr1:146451905..146457329hg18UCSC Ensembl
Innerchr1:145100354..145105263hg17UCSC Ensembl
Outerchr1:145100193..145105617hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385429
hg195425
hg185425
hg175425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA18537
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)nssv19095
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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