A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000242



Internal ID18742773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44254656..44297783hg38UCSC Ensembl
Innerchr3:44296148..44339275hg19UCSC Ensembl
Innerchr3:44271152..44314279hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3843128
hg1943128
hg1843128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4729n100
Supporting Variantsnssv3589736
Samples
Known GenesTOPAZ1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000242
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