A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4852



Internal ID15196355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179050736..179083591hg38UCSC Ensembl
Outerchr1:179019871..179052726hg19UCSC Ensembl
Outerchr1:177286494..177319349hg18UCSC Ensembl
Outerchr1:175751528..175784383hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386429
hg196429
hg186429
hg176429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3721
Supporting Variants
SamplesNA19129
Known GenesFAM20B, TOR3A
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)nssv4852
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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