A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1187



Internal ID15544545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:38216955..38249822hg38UCSC Ensembl
Outerchr14:38686160..38719027hg19UCSC Ensembl
Outerchr14:37755911..37788778hg18UCSC Ensembl
Outerchr14:37755911..37788778hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg388116
hg198116
hg188116
hg178116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1245
Supporting Variants
SamplesNA19240
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)nssv1187
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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