A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538459



Internal ID15501982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90954083..91002815hg38UCSC Ensembl
Innerchr5:90249900..90298632hg19UCSC Ensembl
Innerchr5:90285656..90334388hg18UCSC Ensembl
Innerchr5:90285656..90334388hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3848733
hg1948733
hg1848733
hg1748733
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462247
Supporting Variants
Samples1780854061_A
Known GenesGPR98
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)nssv538459
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