A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457312



Internal ID15170691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:760039..797743hg38UCSC Ensembl
Innerchr16:810039..847743hg19UCSC Ensembl
Innerchr16:750040..787744hg18UCSC Ensembl
Innerchr16:750040..787744hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3837705
hg1937705
hg1837705
hg1737705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534526
SamplesHGDP00602
Known GenesCHTF18, MIR662, MSLN, RPUSD1
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)nsv457312
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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