A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457335



Internal ID15170714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1729694..1789022hg38UCSC Ensembl
Innerchr16:1779695..1839023hg19UCSC Ensembl
Innerchr16:1719696..1779024hg18UCSC Ensembl
Innerchr16:1719696..1779024hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3859329
hg1959329
hg1859329
hg1759329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534542
Samples1780854288_A
Known GenesEME2, MAPK8IP3, MIR3177, MRPS34, NME3, NUBP2, SPSB3
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)nsv457335
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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