A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538452



Internal ID15505772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84902599..84974299hg38UCSC Ensembl
Innerchr5:84198417..84270117hg19UCSC Ensembl
Innerchr5:84234173..84305873hg18UCSC Ensembl
Innerchr5:84234173..84305873hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3871701
hg1971701
hg1871701
hg1771701
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462238
Supporting Variants
SamplesHGDP00214
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)nssv538452
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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