A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4483n100



Internal ID19014851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20362634..21212930hg38UCSC Ensembl
chr22:20716924..21567219hg19UCSC Ensembl
chr22:19046924..19897219hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38850297
hg19850296
hg18850296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061867, nsv1058870
Samples
Known GenesAIFM3, BCRP2, CRKL, FAM230B, KLHL22, LOC400891, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, POM121L4P, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP, ZNF74
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4483n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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