A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703600



Internal ID15093566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45371511..45389960hg38UCSC Ensembl
Innerchr22:45767391..45785840hg19UCSC Ensembl
Innerchr22:44146055..44164504hg18UCSC Ensembl
Innerchr22:44087928..44106377hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3818450
hg1918450
hg1818450
hg1718450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
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)nssv703600
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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