A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540058



Internal ID15164589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:142001319..142086604hg38UCSC Ensembl
Innerchr6:142322456..142407741hg19UCSC Ensembl
Innerchr6:142364149..142449434hg18UCSC Ensembl
Innerchr6:142364149..142449434hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3885286
hg1985286
hg1885286
hg1785286
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464069
Supporting Variants
SamplesHGDP01380
Known GenesNMBR
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)nssv540058
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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