A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455958



Internal ID15516023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68873982..68907601hg38UCSC Ensembl
Innerchr13:69448114..69481733hg19UCSC Ensembl
Innerchr13:68346115..68379734hg18UCSC Ensembl
Innerchr13:68346115..68379734hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3833620
hg1933620
hg1833620
hg1733620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533406
SamplesHGDP00626
Known GenesLINC00550, MIR548H4
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)nsv455958
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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