A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685734



Internal ID15075700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45362878..45389960hg38UCSC Ensembl
Innerchr22:45758758..45785840hg19UCSC Ensembl
Innerchr22:44137422..44164504hg18UCSC Ensembl
Innerchr22:44079295..44106377hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3827083
hg1927083
hg1827083
hg1727083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515690
Supporting Variants
Samples
Known GenesSMC1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685734
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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