A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821678



Internal ID16064053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20061704..22308242hg38UCSC Ensembl
Innerchr15:20266957..22674465hg19UCSC Ensembl
Innerchr15:18526971..20225829hg18UCSC Ensembl
Innerchr15:18526971..20225829hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382246539
hg192407509
hg181698859
hg171698859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421307, nssv1421295, nssv1421287, nssv1421305, nssv1421297, nssv1421294, nssv1421292, nssv1421298, nssv1421306, nssv1421293, nssv1421299, nssv1421296, nssv1421303, nssv1421301, nssv1421300, nssv1421289, nssv1421304, nssv1421288
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)nsv821678
Frequency
Sample Size31
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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