A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540117



Internal ID15155945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167311162..167365010hg38UCSC Ensembl
Innerchr6:167724650..167778498hg19UCSC Ensembl
Innerchr6:167644640..167698488hg18UCSC Ensembl
Innerchr6:167695061..167748909hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3853849
hg1953849
hg1853849
hg1753849
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464145
Supporting Variants
Samples1780854477_A
Known GenesTTLL2, UNC93A
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)nssv540117
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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