A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7749



Internal ID15536115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40176750..40221483hg38UCSC Ensembl
Outerchr22:40572754..40617487hg19UCSC Ensembl
Outerchr22:38902700..38947433hg18UCSC Ensembl
Outerchr22:38897254..38941987hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3844734
hg1944734
hg1844734
hg1744734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3630
Supporting Variants
SamplesNA12156
Known GenesTNRC6B
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)nssv7749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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