A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19766



Internal ID15494635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148452547..148528245hg38UCSC Ensembl
Outerchr1:148452057..148529226hg38UCSC Ensembl
Innerchr1:147924668..147999788hg19UCSC Ensembl
Outerchr1:147924178..148000770hg19UCSC Ensembl
Innerchr1:146391292..146466412hg18UCSC Ensembl
Outerchr1:146390802..146467394hg18UCSC Ensembl
Innerchr1:145039580..145114700hg17UCSC Ensembl
Outerchr1:145039090..145115682hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3877170
hg1976593
hg1876593
hg1776593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA19007
Known GenesLINC01138, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)nssv19766
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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