A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998208



Internal ID19157745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191303645..191457561hg38UCSC Ensembl
Innerchr3:191021434..191175350hg19UCSC Ensembl
Innerchr3:192504128..192658044hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38153917
hg19153917
hg18153917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611334, nssv3611333, nssv3611332
Samples
Known GenesCCDC50, UTS2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998208
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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