A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672847



Internal ID15062813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18953944..19002615hg38UCSC Ensembl
Innerchr22:18941457..18990128hg19UCSC Ensembl
Innerchr22:17321457..17370128hg18UCSC Ensembl
Innerchr22:17316011..17364682hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3848672
hg1948672
hg1848672
hg1748672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672847
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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