A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1400



Internal ID15199277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92928206..92973049hg38UCSC Ensembl
Outerchr14:93394551..93439394hg19UCSC Ensembl
Outerchr14:92464304..92509147hg18UCSC Ensembl
Outerchr14:92464304..92509147hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3844844
hg1944844
hg1844844
hg1744844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5520
SamplesNA19129
Known GenesCHGA, ITPK1
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)nsv1400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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