A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542747



Internal ID15510076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:115722372..115763827hg38UCSC Ensembl
Innerchr10:117481882..117523338hg19UCSC Ensembl
Innerchr10:117471872..117513328hg18UCSC Ensembl
Innerchr10:117471872..117513328hg17UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3841456
hg1941457
hg1841457
hg1741457
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467458
Supporting Variants
SamplesHGDP01185
Known GenesATRNL1
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)nssv542747
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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