A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1431



Internal ID15545994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103029305..103073528hg38UCSC Ensembl
Outerchr14:103495642..103539865hg19UCSC Ensembl
Outerchr14:102565395..102609618hg18UCSC Ensembl
Outerchr14:102565395..102609618hg17UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg387081
hg197081
hg187081
hg177081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5525, nssv2086
SamplesNA18555, NA19129
Known GenesCDC42BPB
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)nsv1431
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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