A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538674



Internal ID15502351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174913213..174933214hg38UCSC Ensembl
Innerchr5:174340216..174360217hg19UCSC Ensembl
Innerchr5:174272822..174292823hg18UCSC Ensembl
Innerchr5:174272822..174292823hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3820002
hg1920002
hg1820002
hg1720002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462535
Supporting Variants
Samples1780854325_A
Known GenesFLJ16171
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)nssv538674
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