A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5797



Internal ID15196921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115999983..116020342hg38UCSC Ensembl
Outerchr1:116542604..116562963hg19UCSC Ensembl
Outerchr1:116344127..116364486hg18UCSC Ensembl
Outerchr1:116254646..116275005hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg387510
hg197510
hg187510
hg177510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2522
Supporting Variants
SamplesNA19129
Known GenesSLC22A15
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)nssv5797
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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