A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12753



Internal ID15481207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16923621..16930054hg38UCSC Ensembl
Outerchr1:16923169..16930645hg38UCSC Ensembl
Innerchr1:17250116..17256549hg19UCSC Ensembl
Outerchr1:17249664..17257140hg19UCSC Ensembl
Innerchr1:17122703..17129136hg18UCSC Ensembl
Outerchr1:17122251..17129727hg18UCSC Ensembl
Innerchr1:16995422..17001855hg17UCSC Ensembl
Outerchr1:16994970..17002446hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg387477
hg197477
hg187477
hg177477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA07048
Known GenesCROCC
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)nssv12753
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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