A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679878



Internal ID15069844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29081853..29086233hg38UCSC Ensembl
Innerchr22:29477841..29482221hg19UCSC Ensembl
Innerchr22:27807841..27812221hg18UCSC Ensembl
Innerchr22:27802395..27806775hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg384381
hg194381
hg184381
hg174381
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519517
Supporting Variants
Samples
Known GenesKREMEN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679878
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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