A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055442



Internal ID19144661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25340361..25358364hg38UCSC Ensembl
Innerchr22:25736328..25754331hg19UCSC Ensembl
Innerchr22:24066328..24084331hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3818004
hg1918004
hg1818004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600711
Samples
Known GenesLRP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055442
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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