A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056614



Internal ID18799145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20346736..21108435hg38UCSC Ensembl
Innerchr22:20470598..21462724hg19UCSC Ensembl
Innerchr22:18850598..19792724hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38761700
hg19992127
hg18942127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587378
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)nsv1056614
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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