A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534551



Internal ID15156648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2055054..2200730hg38UCSC Ensembl
Innerchr16:2105055..2250731hg19UCSC Ensembl
Innerchr16:2045056..2190732hg18UCSC Ensembl
Innerchr16:2045056..2190732hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38145677
hg19145677
hg18145677
hg17145677
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457349
Supporting Variants
Samples1780862197_A
Known GenesCASKIN1, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, PKD1, RAB26, SNORD60, TRAF7, TSC2
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)nssv534551
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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