A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534685



Internal ID15502606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:64853451..64901530hg38UCSC Ensembl
Innerchr16:64887354..64935433hg19UCSC Ensembl
Innerchr16:63444855..63492934hg18UCSC Ensembl
Innerchr16:63444855..63492934hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3848080
hg1948080
hg1848080
hg1748080
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457512
Supporting Variants
Samples1780854464_A
Known Genes
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)nssv534685
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer