A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4866



Internal ID15196331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179911540..179942160hg38UCSC Ensembl
Outerchr1:179880675..179911295hg19UCSC Ensembl
Outerchr1:178147298..178177918hg18UCSC Ensembl
Outerchr1:176612332..176642952hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388665
hg198665
hg188665
hg178665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3744
Supporting Variants
SamplesNA19129
Known GenesTOR1AIP1
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)nssv4866
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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