A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4105



Internal ID15538832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30280775..30304812hg38UCSC Ensembl
Outerchr14:30749981..30774018hg19UCSC Ensembl
Outerchr14:29819732..29843769hg18UCSC Ensembl
Outerchr14:29819732..29843769hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg387219
hg197219
hg187219
hg177219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1229
Supporting Variants
SamplesNA12878
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)nssv4105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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