A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457621



Internal ID15171000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89100686..89217401hg38UCSC Ensembl
Innerchr16:89167094..89283809hg19UCSC Ensembl
Innerchr16:87694595..87811310hg18UCSC Ensembl
Innerchr16:87694595..87811310hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38116716
hg19116716
hg18116716
hg17116716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534767
SamplesHGDP00696
Known GenesACSF3, CDH15, LINC00304, LOC400558, SLC22A31
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)nsv457621
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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