A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv435744



Internal ID5949954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18882077..20652653hg19UCSC Ensembl
chr22:17262077..18982653hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv465760
SamplesNA15510
Known GenesARVCF, C22orf25, C22orf29, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, GNB1L, GP1BB, GSC2, HIRA, LOC150185, LOC150197, LOC284865, LOC388849, LOC729444, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MRPL40, PI4KAP1, PRODH, RANBP1, RIMBP3, RTN4R, SEPT5, SEPT5-GP1BB, SLC25A1, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1L, ZDHHC8
MethodSequencing
AnalysisThe best placements of paired-ends were used for identifying several different categories of SV: (i) deletions (size sd=3 kb) were identified from two or more overlapping discordant paired-ends with paired-end span >cutoff (with the condition that both putative breakpoints are spanned)
Platform454
Comments
ReferenceKorbel et al 2007
Pubmed ID17901297
Accession Number(s)nsv435744
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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