A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537483



Internal ID15155724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:182938822..183025479hg38UCSC Ensembl
Innerchr3:182656610..182743267hg19UCSC Ensembl
Innerchr3:184139304..184225961hg18UCSC Ensembl
Innerchr3:184139312..184225969hg17UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3886658
hg1986658
hg1886658
hg1786658
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461031
Supporting Variants
Samples1780854339_A
Known GenesDCUN1D1, MCCC1
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)nssv537483
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