A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539178



Internal ID15156618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:69915274..69984270hg38UCSC Ensembl
Innerchr6:70625166..70694162hg19UCSC Ensembl
Innerchr6:70681887..70750883hg18UCSC Ensembl
Innerchr6:70681887..70750883hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3868997
hg1968997
hg1868997
hg1768997
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463151
Supporting Variants
Samples1780862194_A
Known GenesCOL19A1
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)nssv539178
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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