A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1416



Internal ID15199293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96217449..96252771hg38UCSC Ensembl
Outerchr14:96683786..96719108hg19UCSC Ensembl
Outerchr14:95753539..95788861hg18UCSC Ensembl
Outerchr14:95753539..95788861hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385666
hg195666
hg185666
hg175666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1218
SamplesNA19240
Known GenesBDKRB2
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)nsv1416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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