A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821617



Internal ID16063992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25311314..25360413hg38UCSC Ensembl
Innerchr1:25637805..25686904hg19UCSC Ensembl
Innerchr1:25510392..25559491hg18UCSC Ensembl
Innerchr1:25383121..25432220hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3849100
hg1949100
hg1849100
hg1749100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421385, nssv1421396
Samples
Known GenesRHD, TMEM50A
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)nsv821617
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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