A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv353



Internal ID15198510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186650838..186665964hg38UCSC Ensembl
Outerchr3:186368627..186383753hg19UCSC Ensembl
Outerchr3:187851321..187866447hg18UCSC Ensembl
Outerchr3:187851329..187866455hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg387349
hg197349
hg187349
hg177349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153
Supporting Variants
SamplesNA19240
Known GenesFETUB, HRG
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)nssv353
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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