A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542567



Internal ID15162408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54485591..54503066hg38UCSC Ensembl
Innerchr10:56245351..56262826hg19UCSC Ensembl
Innerchr10:55915357..55932832hg18UCSC Ensembl
Innerchr10:55915357..55932832hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3817476
hg1917476
hg1817476
hg1717476
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467223
Supporting Variants
SamplesHGDP00941
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)nssv542567
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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