A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421308



Internal ID16063881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30110211..30579196hg38UCSC Ensembl
Innerchr15:30402414..30871399hg19UCSC Ensembl
Innerchr15:28189706..28658691hg18UCSC Ensembl
Innerchr15:28189706..28658691hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38468986
hg19468986
hg18468986
hg17468986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821679
Supporting Variants
Samples
Known GenesCHRFAM7A, DKFZP434L187, GOLGA8T, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)nssv1421308
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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