A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1399



Internal ID15199276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92681684..92712181hg38UCSC Ensembl
Outerchr14:93148029..93178526hg19UCSC Ensembl
Outerchr14:92217782..92248279hg18UCSC Ensembl
Outerchr14:92217782..92248279hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg389005
hg199005
hg189005
hg179005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10028
SamplesNA18956
Known GenesLGMN, RIN3
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)nsv1399
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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