A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462221



Internal ID15522286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81538319..81587291hg38UCSC Ensembl
Innerchr5:80834138..80883110hg19UCSC Ensembl
Innerchr5:80869894..80918866hg18UCSC Ensembl
Innerchr5:80869894..80918866hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3848973
hg1948973
hg1848973
hg1748973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538438
SamplesHGDP01418
Known GenesSSBP2
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)nsv462221
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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