A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2376



Internal ID15194075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42099466..42146296hg38UCSC Ensembl
Outerchr22:42495470..42542297hg19UCSC Ensembl
Outerchr22:40825416..40872241hg18UCSC Ensembl
Outerchr22:40819970..40866795hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3846831
hg1946828
hg1846826
hg1746826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3641
Supporting Variants
SamplesNA18555
Known GenesCYP2D6, CYP2D7P, NDUFA6-AS1
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)nssv2376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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