A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457426



Internal ID15170805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15031584..15074903hg38UCSC Ensembl
Innerchr16:15125441..15168760hg19UCSC Ensembl
Innerchr16:15032942..15076261hg18UCSC Ensembl
Innerchr16:15032942..15076261hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3843320
hg1943320
hg1843320
hg1743320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534620
Samples1782681079_A
Known GenesNTAN1, PDXDC1, RRN3
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)nsv457426
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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