A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457595



Internal ID15170974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84013110..84091665hg38UCSC Ensembl
Innerchr16:84046715..84125270hg19UCSC Ensembl
Innerchr16:82604216..82682771hg18UCSC Ensembl
Innerchr16:82604216..82682771hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3878556
hg1978556
hg1878556
hg1778556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534745
SamplesHGDP00445
Known GenesMBTPS1, SLC38A8
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)nsv457595
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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