A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541786



Internal ID15507101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2401592..2496273hg38UCSC Ensembl
Innerchr1:2333031..2427712hg19UCSC Ensembl
Innerchr1:2322891..2417572hg18UCSC Ensembl
Innerchr1:2365193..2459874hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3894682
hg1994682
hg1894682
hg1794682
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466171
Supporting Variants
SamplesHGDP00607
Known GenesPEX10, PLCH2, RER1
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)nssv541786
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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