A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5526



Internal ID15543935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104483327..104502936hg38UCSC Ensembl
Outerchr14:104949664..104969273hg19UCSC Ensembl
Outerchr14:104020709..104040318hg18UCSC Ensembl
Outerchr14:104020709..104040318hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg387382
hg197382
hg187382
hg177382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1435
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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