A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19433



Internal ID15492764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53020246..53020741hg38UCSC Ensembl
Outerchr1:53017802..53022890hg38UCSC Ensembl
Innerchr1:53485918..53486413hg19UCSC Ensembl
Outerchr1:53483474..53488562hg19UCSC Ensembl
Innerchr1:53258506..53259001hg18UCSC Ensembl
Outerchr1:53256062..53261150hg18UCSC Ensembl
Innerchr1:53197939..53198434hg17UCSC Ensembl
Outerchr1:53195495..53200583hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385089
hg195089
hg185089
hg175089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10150
Supporting Variants
SamplesNA18972
Known GenesSCP2
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)nssv19433
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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