A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537747



Internal ID15159575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45468436..46225830hg38UCSC Ensembl
Innerchr4:45470453..46227847hg19UCSC Ensembl
Innerchr4:45165210..45922604hg18UCSC Ensembl
Innerchr4:45311381..46068775hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38757395
hg19757395
hg18757395
hg17757395
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461353
Supporting Variants
SamplesHGDP00455
Known GenesGABRG1
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)nssv537747
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