A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540060



Internal ID15504117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:148288264..148329728hg38UCSC Ensembl
Innerchr6:148609400..148650864hg19UCSC Ensembl
Innerchr6:148651093..148692557hg18UCSC Ensembl
Innerchr6:148651093..148692557hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3841465
hg1941465
hg1841465
hg1741465
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464071
Supporting Variants
Samples1780862573_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)nssv540060
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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