A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679238



Internal ID15069204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185479038..185506717hg38UCSC Ensembl
Innerchr4:186400192..186427871hg19UCSC Ensembl
Innerchr4:186637186..186664865hg18UCSC Ensembl
Innerchr4:186775341..186803020hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3827680
hg1927680
hg1827680
hg1727680
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517035
Supporting Variants
Samples
Known GenesPDLIM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679238
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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