A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24899



Internal ID15839639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143878198..143899927hg38UCSC Ensembl
Outerchr1:143877666..143900354hg38UCSC Ensembl
Innerchr1:120910727..120932533hg19UCSC Ensembl
Outerchr1:120910300..120933065hg19UCSC Ensembl
Innerchr1:120712250..120734056hg18UCSC Ensembl
Outerchr1:120711823..120734588hg18UCSC Ensembl
Innerchr1:120622769..120644575hg17UCSC Ensembl
Outerchr1:120622342..120645107hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3822689
hg1922766
hg1822766
hg1722766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10772
Supporting Variants
SamplesNA18972
Known GenesFCGR1B, HIST2H2BA
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)nssv24899
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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