A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv418



Internal ID15544755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146286015..146314823hg38UCSC Ensembl
Outerchr4:147207167..147235975hg19UCSC Ensembl
Outerchr4:147426617..147455425hg18UCSC Ensembl
Outerchr4:147564772..147593580hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg386933
hg196933
hg186933
hg176933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4537
Supporting Variants
SamplesNA19240
Known GenesSLC10A7
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)nssv418
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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