A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057349



Internal ID19146568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40832930..40863082hg38UCSC Ensembl
Innerchr19:41338835..41368987hg19UCSC Ensembl
Innerchr19:46030675..46060827hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3830153
hg1930153
hg1830153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3531n100
Supporting Variantsnssv3568226, nssv3568223, nssv3568224, nssv3568225
Samples
Known GenesCYP2A6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057349
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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