A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534617



Internal ID15158538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14004283..14076712hg38UCSC Ensembl
Innerchr16:14098140..14170569hg19UCSC Ensembl
Innerchr16:14005641..14078070hg18UCSC Ensembl
Innerchr16:14005641..14078070hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3872430
hg1972430
hg1872430
hg1772430
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457423
Supporting Variants
SamplesHGDP00080
Known GenesMKL2
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)nssv534617
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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