A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457606



Internal ID15170985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84792330..84895125hg38UCSC Ensembl
Innerchr16:84825936..84928731hg19UCSC Ensembl
Innerchr16:83383437..83486232hg18UCSC Ensembl
Innerchr16:83383437..83486232hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38102796
hg19102796
hg18102796
hg17102796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534754
SamplesHGDP00766
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)nsv457606
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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