A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1258



Internal ID15199135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:44871526..44904143hg38UCSC Ensembl
Outerchr14:45340729..45373346hg19UCSC Ensembl
Outerchr14:44410479..44443096hg18UCSC Ensembl
Outerchr14:44410479..44443096hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg386656
hg196656
hg186656
hg176656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5498
SamplesNA19129
Known GenesC14orf28
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)nsv1258
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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