A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534762



Internal ID15158164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87705252..87914409hg38UCSC Ensembl
Innerchr16:87738858..87948015hg19UCSC Ensembl
Innerchr16:86296359..86505516hg18UCSC Ensembl
Innerchr16:86296359..86505516hg17UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38209158
hg19209158
hg18209158
hg17209158
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457616
Supporting Variants
Samples1798860491_A
Known GenesCA5A, KLHDC4, MIR6775, SLC7A5
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)nssv534762
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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