A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821687



Internal ID16064062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46082189..46692993hg38UCSC Ensembl
Innerchr17:44159555..44770359hg19UCSC Ensembl
Innerchr17:41515374..42125543hg18UCSC Ensembl
Innerchr17:41515374..42125543hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38610805
hg19610805
hg18610170
hg17610170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421323, nssv1421322, nssv1421325
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)nsv821687
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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