A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701888



Internal ID15091854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21072704..21106531hg38UCSC Ensembl
Innerchr14:21540863..21574690hg19UCSC Ensembl
Innerchr14:20610703..20644530hg18UCSC Ensembl
Innerchr14:20610703..20644530hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3833828
hg1933828
hg1833828
hg1733828
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525724
Supporting Variants
Samples
Known GenesARHGEF40, TMEM253, ZNF219
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701888
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