A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421191



Internal ID16410450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148791417..148998564hg38UCSC Ensembl
Innerchr1:144885908..145095806hg19UCSC Ensembl
Innerchr1:143597265..143807163hg18UCSC Ensembl
Innerchr1:142374952..142584850hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38207148
hg19209899
hg18209899
hg17209899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821620
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)nssv1421191
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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