A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3597



Internal ID15201536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32192437..32236737hg38UCSC Ensembl
Outerchr22:32588424..32632724hg19UCSC Ensembl
Outerchr22:30918424..30962724hg18UCSC Ensembl
Outerchr22:30912978..30957278hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3844301
hg1944301
hg1844301
hg1744301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368
SamplesNA18555
Known GenesRFPL2, SLC5A4
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)nsv3597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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