A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457491



Internal ID15170870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58173299..58234532hg38UCSC Ensembl
Innerchr16:58207203..58268436hg19UCSC Ensembl
Innerchr16:56764704..56825937hg18UCSC Ensembl
Innerchr16:56764704..56825937hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3861234
hg1961234
hg1861234
hg1761234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534672
Samples1780862101_A
Known GenesCSNK2A2
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)nsv457491
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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