A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540057



Internal ID15502618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:141942064..141995040hg38UCSC Ensembl
Innerchr6:142263201..142316177hg19UCSC Ensembl
Innerchr6:142304894..142357870hg18UCSC Ensembl
Innerchr6:142304894..142357870hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3852977
hg1952977
hg1852977
hg1752977
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464068
Supporting Variants
Samples1780854465_A
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)nssv540057
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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