A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv403



Internal ID15545121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:104650895..104685950hg38UCSC Ensembl
Outerchr4:105572052..105607107hg19UCSC Ensembl
Outerchr4:105791501..105826556hg18UCSC Ensembl
Outerchr4:105929656..105964711hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg385937
hg195937
hg185937
hg175937
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449
Supporting Variants
SamplesNA19240
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)nssv403
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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