A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821634



Internal ID16064009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22425451..22864325hg38UCSC Ensembl
Innerchr4:22427074..22865948hg19UCSC Ensembl
Innerchr4:22036172..22475046hg18UCSC Ensembl
Innerchr4:22103343..22542217hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38438875
hg19438875
hg18438875
hg17438875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421358
Samples
Known GenesGBA3, GPR125
MethodROMA
AnalysisMeasured intensities without background subtraction were used to calculate ratios. Data were normalized using an intensity-based lowess curve fitting algorithm similar to that described in Yang et al. Log ratio values obtained from color reversal experiments were averaged and displayed as presented in the figures. Copy number polymorphisms (CNPs) were identified based on probe ratios using a Hidden Markov Model.
PlatformA custom Nimblegen photoprint 85,000 probe ROMA oligo array platform was used.
Comments
ReferenceSebat_et_al_2004
Pubmed ID15273396
Accession Number(s)nsv821634
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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