A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516806



Internal ID15097413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21628603..21642781hg38UCSC Ensembl
Innerchr22:21982892..21997070hg19UCSC Ensembl
Innerchr22:20312892..20327070hg18UCSC Ensembl
Innerchr22:20307446..20321624hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3814179
hg1914179
hg1814179
hg1714179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656215, nssv671059, nssv659433, nssv674169, nssv659272
Samples
Known GenesCCDC116, SDF2L1, YDJC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516806
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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