A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590171



Internal ID16377580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45508002..45509915hg38UCSC Ensembl
Innerchr3:45549494..45551407hg19UCSC Ensembl
Innerchr3:45524498..45526411hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381914
hg191914
hg181914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8301n54
Supporting Variantsnssv962474
Samples
Known GenesLARS2, LARS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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