A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540169



Internal ID15512898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169806629..169854950hg38UCSC Ensembl
Innerchr6:170206725..170255046hg19UCSC Ensembl
Innerchr6:169948650..169996971hg18UCSC Ensembl
Innerchr6:170024357..170072678hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3848322
hg1948322
hg1848322
hg1748322
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464224
Supporting Variants
SamplesNINDS_74
Known Genes
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)nssv540169
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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