A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1565



Internal ID15198824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199264502..199299835hg38UCSC Ensembl
Outerchr2:200129225..200164558hg19UCSC Ensembl
Outerchr2:199837470..199872803hg18UCSC Ensembl
Outerchr2:199954731..199990064hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
hg175658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3104
Supporting Variants
SamplesNA19240
Known GenesSATB2
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)nssv1565
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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