A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561



Internal ID15201497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20479145..20513532hg38UCSC Ensembl
Outerchr22:20833432..20867819hg19UCSC Ensembl
Outerchr22:19163432..19197819hg18UCSC Ensembl
Outerchr22:19157986..19192373hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384891
hg194891
hg184891
hg174891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4570, nssv5918, nssv2356
SamplesNA12878, NA18555, NA19129
Known GenesKLHL22, MED15
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3561
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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