A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457587



Internal ID15170966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83817468..83908216hg38UCSC Ensembl
Innerchr16:83851073..83941821hg19UCSC Ensembl
Innerchr16:82408574..82499322hg18UCSC Ensembl
Innerchr16:82408574..82499322hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3890749
hg1990749
hg1890749
hg1790749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534740
SamplesHGDP00748
Known GenesMLYCD
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)nsv457587
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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