A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457610



Internal ID15170989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84891388..84909613hg38UCSC Ensembl
Innerchr16:84924994..84943219hg19UCSC Ensembl
Innerchr16:83482495..83500720hg18UCSC Ensembl
Innerchr16:83482495..83500720hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3818226
hg1918226
hg1818226
hg1718226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534756
SamplesHGDP01217
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)nsv457610
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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