A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5254



Internal ID15203359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246550058..246584620hg38UCSC Ensembl
Outerchr1:246713360..246747922hg19UCSC Ensembl
Outerchr1:244779983..244814545hg18UCSC Ensembl
Outerchr1:243039401..243073963hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386436
hg196436
hg186436
hg176436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618
SamplesNA19240
Known GenesCNST, TFB2M
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)nsv5254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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