A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462589



Internal ID15175968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181006880..181180883hg38UCSC Ensembl
Innerchr5:180433880..180607883hg19UCSC Ensembl
Innerchr5:180366486..180540489hg18UCSC Ensembl
Innerchr5:180366486..180540489hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38174004
hg19174004
hg18174004
hg17174004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv735n27
Supporting Variantsnssv538715
SamplesHGDP00472
Known GenesBTNL9, MIR8089, OR2V1, OR2V2
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)nsv462589
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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