A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467213



Internal ID15527278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53902329..53965474hg38UCSC Ensembl
Innerchr10:55662089..55725234hg19UCSC Ensembl
Innerchr10:55332095..55395240hg18UCSC Ensembl
Innerchr10:55332095..55395240hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3863146
hg1963146
hg1863146
hg1763146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542558
Samples1780854299_A
Known GenesPCDH15
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv467213
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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