A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821665



Internal ID9377708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:80752718..82292739hg38UCSC Ensembl
Innerchr9:83367633..84907654hg19UCSC Ensembl
Innerchr9:82557453..84097474hg18UCSC Ensembl
Innerchr9:80597187..82137208hg17UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg381540022
hg191540022
hg181540022
hg171540022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421239
Samples
Known GenesLOC101927502, SPATA31D1, SPATA31D3, SPATA31D4, SPATA31D5P, TLE1
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)nsv821665
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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