A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4590



Internal ID15192631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42134472..42139273hg38UCSC Ensembl
Outerchr22:42530478..42535284hg19UCSC Ensembl
Outerchr22:40860422..40865228hg18UCSC Ensembl
Outerchr22:40854976..40859782hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813672
hg1913672
hg1813672
hg1713672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3643
Supporting Variants
SamplesNA12878
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)nssv4590
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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