A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056538



Internal ID18799069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19037281hg38UCSC Ensembl
Innerchr22:18876416..19024794hg19UCSC Ensembl
Innerchr22:17256416..17404794hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38148379
hg19148379
hg18148379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4472n100
Supporting Variantsnssv3587270
Samples
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056538
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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