A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700543



Internal ID15090509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40993505..41794305hg38UCSC Ensembl
Innerchr22:41389509..42190309hg19UCSC Ensembl
Innerchr22:39719455..40520255hg18UCSC Ensembl
Innerchr22:39714009..40514809hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38800801
hg19800801
hg18800801
hg17800801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524585
Supporting Variants
Samples
Known GenesACO2, C22orf46, CHADL, CSDC2, DESI1, EP300, L3MBTL2, MEI1, MIR1281, MIR6889, NHP2L1, PHF5A, PMM1, POLR3H, RANGAP1, TEF, TOB2, XRCC6, ZC3H7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700543
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