A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056412



Internal ID18798943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43928224..43974659hg38UCSC Ensembl
Innerchr22:44324104..44370539hg19UCSC Ensembl
Innerchr22:42655437..42701872hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3846436
hg1946436
hg1846436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592243
Samples
Known GenesPNPLA3, SAMM50
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056412
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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