A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1241



Internal ID15545804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35687447..35699976hg38UCSC Ensembl
Outerchr14:36156653..36169182hg19UCSC Ensembl
Outerchr14:35226404..35238933hg18UCSC Ensembl
Outerchr14:35226404..35238933hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3825046
hg1925046
hg1825046
hg1725046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9300
SamplesNA18517
Known GenesRALGAPA1, RALGAPA1P
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)nsv1241
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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