A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5936



Internal ID15543439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49780634..49814118hg38UCSC Ensembl
Outerchr22:50174282..50207766hg19UCSC Ensembl
Outerchr22:48560286..48593770hg18UCSC Ensembl
Outerchr22:48495143..48528627hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385797
hg195797
hg185797
hg175797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3667
Supporting Variants
SamplesNA19129
Known GenesBRD1
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)nssv5936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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