A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378



Internal ID15194073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42138793..42143305hg38UCSC Ensembl
Outerchr22:42534802..42539306hg19UCSC Ensembl
Outerchr22:40864746..40869250hg18UCSC Ensembl
Outerchr22:40859300..40863804hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3823016
hg1923016
hg1823016
hg1723016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3643
Supporting Variants
SamplesNA18555
Known GenesCYP2D7P
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)nssv2378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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