A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2354



Internal ID15540785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17280873..17303041hg38UCSC Ensembl
Outerchr22:17761763..17783931hg19UCSC Ensembl
Outerchr22:16141763..16163931hg18UCSC Ensembl
Outerchr22:16136317..16158485hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3822169
hg1922169
hg1822169
hg1722169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3552
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2354
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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