A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516394



Internal ID15097001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21936031..22229859hg38UCSC Ensembl
Innerchr22:22290403..22584255hg19UCSC Ensembl
Innerchr22:20620403..20914255hg18UCSC Ensembl
Innerchr22:20614957..20908809hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38293829
hg19293853
hg18293853
hg17293853
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687409, nssv685519, nssv677659, nssv669405, nssv682931, nssv686813, nssv698845, nssv672471, nssv705336, nssv680307, nssv695056, nssv655286, nssv672569, nssv691773, nssv673240, nssv694868, nssv704076, nssv696599, nssv668016, nssv684623, nssv699051, nssv683651
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516394
Frequency
Sample Size2026
Observed Gain12
Observed Loss10
Observed Complex0
Frequencyn/a


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