A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2373



Internal ID15540764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38558445..38602777hg38UCSC Ensembl
Outerchr22:38954450..38998782hg19UCSC Ensembl
Outerchr22:37284396..37328728hg18UCSC Ensembl
Outerchr22:37278950..37323282hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3844333
hg1944333
hg1844333
hg1744333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3624
Supporting Variants
SamplesNA18555
Known GenesDMC1, FAM227A
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)nssv2373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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