A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534618



Internal ID15158255
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 loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457424
Supporting Variants
SamplesHGDP00005
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)nssv534618
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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