A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515690



Internal ID15443301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45362878..45415482hg38UCSC Ensembl
Innerchr22:45758758..45811362hg19UCSC Ensembl
Innerchr22:44137422..44190026hg18UCSC Ensembl
Innerchr22:44079295..44131899hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3852605
hg1952605
hg1852605
hg1752605
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665131, nssv685734, nssv678478, nssv654675, nssv672354, nssv682707, nssv669406, nssv664433, nssv656922, nssv667577, nssv669097, nssv690015, nssv692785, nssv661174, nssv669157, nssv678276, nssv675704, nssv703600, nssv678991
Samples
Known GenesRIBC2, SMC1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515690
Frequency
Sample Size2026
Observed Gain13
Observed Loss6
Observed Complex0
Frequencyn/a


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