A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704919



Internal ID15094885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21072704..21097030hg38UCSC Ensembl
Innerchr14:21540863..21565189hg19UCSC Ensembl
Innerchr14:20610703..20635029hg18UCSC Ensembl
Innerchr14:20610703..20635029hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3824327
hg1924327
hg1824327
hg1724327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528337
Supporting Variants
Samples
Known GenesARHGEF40, ZNF219
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704919
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