A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457620



Internal ID15170999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89091139..89174375hg38UCSC Ensembl
Innerchr16:89157547..89240783hg19UCSC Ensembl
Innerchr16:87685048..87768284hg18UCSC Ensembl
Innerchr16:87685048..87768284hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3883237
hg1983237
hg1883237
hg1783237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534766
SamplesHGDP01346
Known GenesACSF3, CDH15, LINC00304, LOC400558
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)nsv457620
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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