A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462870



Internal ID8489917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31560353..31576412hg38UCSC Ensembl
Innerchr6:31528130..31544189hg19UCSC Ensembl
Innerchr6:31636109..31652168hg18UCSC Ensembl
Innerchr6:31636109..31652168hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3816060
hg1916060
hg1816060
hg1716060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538945
SamplesNINDS_22
Known GenesLTA, TNF
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)nsv462870
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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