A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12527



Internal ID15489441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187829791..188091300hg38UCSC Ensembl
Outerchr4:187724452..188143423hg38UCSC Ensembl
Innerchr4:188750945..189012454hg19UCSC Ensembl
Outerchr4:188645606..189064577hg19UCSC Ensembl
Innerchr4:188987939..189249448hg18UCSC Ensembl
Outerchr4:188882600..189301571hg18UCSC Ensembl
Innerchr4:189126094..189387603hg17UCSC Ensembl
Outerchr4:189020755..189439726hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38418972
hg19418972
hg18418972
hg17418972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10629
Supporting Variants
SamplesNA18563
Known GenesTRIML1, TRIML2, ZFP42
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)nssv12527
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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