A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3082



Internal ID15540893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31504103..31537708hg38UCSC Ensembl
Outerchr22:31900089..31933694hg19UCSC Ensembl
Outerchr22:30230089..30263694hg18UCSC Ensembl
Outerchr22:30224643..30258248hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386420
hg196420
hg186420
hg176420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3594
Supporting Variants
SamplesNA18555
Known GenesSFI1
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)nssv3082
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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