A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997719



Internal ID19157256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68544494..68607148hg38UCSC Ensembl
Innerchr4:69410212..69472866hg19UCSC Ensembl
Innerchr4:69092807..69155461hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3862655
hg1962655
hg1862655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5274n100
Supporting Variantsnssv3630119
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997719
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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