A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587379



Internal ID18538974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20362634..21108157hg38UCSC Ensembl
Innerchr22:20716924..21462446hg19UCSC Ensembl
Innerchr22:19046924..19792446hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38745524
hg19745523
hg18745523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061867
Supporting Variants
Samples
Known GenesAIFM3, BCRP2, CRKL, 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)nssv3587379
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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