A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000419



Internal ID18742950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48539818..48568188hg38UCSC Ensembl
Innerchr2:48766957..48795327hg19UCSC Ensembl
Innerchr2:48620461..48648831hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3828371
hg1928371
hg1828371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581638
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000419
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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