A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4104



Internal ID15538831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24181561..24186538hg38UCSC Ensembl
Outerchr14:24650767..24655744hg19UCSC Ensembl
Outerchr14:23720607..23725584hg18UCSC Ensembl
Outerchr14:23720607..23725584hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3829511
hg1929511
hg1829511
hg1729511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1220
Supporting Variants
SamplesNA12878
Known GenesIPO4
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)nssv4104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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