A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4570



Internal ID15192611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20497408..20513532hg38UCSC Ensembl
Outerchr22:20851695..20867819hg19UCSC Ensembl
Outerchr22:19181695..19197819hg18UCSC Ensembl
Outerchr22:19176249..19192373hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384891
hg194891
hg184891
hg174891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3561
Supporting Variants
SamplesNA12878
Known GenesMED15
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)nssv4570
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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