A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534524



Internal ID15507975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:651656..681725hg38UCSC Ensembl
Innerchr16:701656..731725hg19UCSC Ensembl
Innerchr16:641657..671726hg18UCSC Ensembl
Innerchr16:641657..671726hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3830070
hg1930070
hg1830070
hg1730070
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457310
Supporting Variants
SamplesHGDP00747
Known GenesJMJD8, RHBDL1, RHOT2, STUB1, WDR90
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)nssv534524
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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