A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064088



Internal ID19153307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20935961..20947974hg38UCSC Ensembl
Innerchr22:21290249..21302262hg19UCSC Ensembl
Innerchr22:19620249..19632262hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3812014
hg1912014
hg1812014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4485n100
Supporting Variantsnssv3587387
Samples
Known GenesCRKL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064088
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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