A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3744250



Internal ID19042531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143857751..144080924hg38UCSC Ensembl
Innerchr4:144778904..145002077hg19UCSC Ensembl
Innerchr4:144998354..145221527hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38223174
hg19223174
hg18223174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016103
Supporting Variants
Samples
Known GenesGYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3744250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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