A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4700



Internal ID15196325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186647188..186657106hg38UCSC Ensembl
Outerchr3:186364977..186374895hg19UCSC Ensembl
Outerchr3:187847671..187857589hg18UCSC Ensembl
Outerchr3:187847679..187857597hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386244
hg196244
hg186244
hg176244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153
Supporting Variants
SamplesNA19129
Known GenesFETUB
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)nssv4700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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