A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534552



Internal ID15156896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2156590..2274302hg38UCSC Ensembl
Innerchr16:2206591..2324303hg19UCSC Ensembl
Innerchr16:2146592..2264304hg18UCSC Ensembl
Innerchr16:2146592..2264304hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38117713
hg19117713
hg18117713
hg17117713
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457351
Supporting Variants
Samples1780862347_A
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR940, MLST8, PGP, RNPS1, TRAF7
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)nssv534552
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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