A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1242



Internal ID15545805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35930733..35981510hg38UCSC Ensembl
Outerchr14:36399939..36450716hg19UCSC Ensembl
Outerchr14:35469690..35520467hg18UCSC Ensembl
Outerchr14:35469690..35520467hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg385636
hg195636
hg185636
hg175636
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1186, nssv2918
SamplesNA18555, NA19240
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)nsv1242
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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