A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5749



Internal ID15196979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41098027..41118929hg38UCSC Ensembl
Outerchr19:41603932..41624834hg19UCSC Ensembl
Outerchr19:46295772..46316674hg18UCSC Ensembl
Outerchr19:46295772..46316674hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387282
hg197282
hg187282
hg177282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2492
Supporting Variants
SamplesNA19129
Known GenesCYP2F1
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)nssv5749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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