A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594694



Internal ID16035417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76112572..76194400hg38UCSC Ensembl
Innerchr4:77033725..77115553hg19UCSC Ensembl
Innerchr4:77252749..77334577hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3881829
hg1981829
hg1881829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9136n54
Supporting Variantsnssv1152935
SamplesHGDP01280
Known GenesART3, NUP54, SCARB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594694
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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