A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821646



Internal ID16064021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35636651..35834817hg38UCSC Ensembl
Innerchr6:35604428..35802594hg19UCSC Ensembl
Innerchr6:35712406..35910572hg18UCSC Ensembl
Innerchr6:35712406..35910572hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38198167
hg19198167
hg18198167
hg17198167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421186, nssv1421185, nssv1421414, nssv1421415, nssv1421182, nssv1421416, nssv1421417, nssv1421184, nssv1421183, nssv1421181
Samples
Known GenesARMC12, CLPS, CLPSL1, CLPSL2, FKBP5, LHFPL5, LOC285847, MIR5690, SRPK1
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)nsv821646
Frequency
Sample Size31
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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