A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3085



Internal ID15540890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40533335..40557200hg38UCSC Ensembl
Outerchr22:40929339..40953204hg19UCSC Ensembl
Outerchr22:39259285..39283150hg18UCSC Ensembl
Outerchr22:39253839..39277704hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385930
hg195930
hg185930
hg175930
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3634
Supporting Variants
SamplesNA18555
Known GenesMKL1
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)nssv3085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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