A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1003191



Internal ID16297147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91457930..91977158hg38UCSC Ensembl
Innerchr4:92379081..92898309hg19UCSC Ensembl
Innerchr4:92598104..93117332hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38519229
hg19519229
hg18519229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594861
Supporting Variants
Samples
Known GenesCCSER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1003191
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