A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465603



Internal ID15178982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19679573..19697887hg38UCSC Ensembl
Innerchr8:19537084..19555398hg19UCSC Ensembl
Innerchr8:19581364..19599678hg18UCSC Ensembl
Innerchr8:19581364..19599678hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3818315
hg1918315
hg1818315
hg1718315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n27
Supporting Variantsnssv541386
SamplesHGDP00455
Known GenesCSGALNACT1
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)nsv465603
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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