A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457608



Internal ID15170987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84845680..84871936hg38UCSC Ensembl
Innerchr16:84879286..84905542hg19UCSC Ensembl
Innerchr16:83436787..83463043hg18UCSC Ensembl
Innerchr16:83436787..83463043hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3826257
hg1926257
hg1826257
hg1726257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534755
SamplesHGDP00562
Known GenesCRISPLD2
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)nsv457608
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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