A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1740



Internal ID15199617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14654306..14769738hg38UCSC Ensembl
Outerchr16:14748163..14863595hg19UCSC Ensembl
Outerchr16:14655664..14771096hg18UCSC Ensembl
Outerchr16:14655664..14771096hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38115433
hg19115433
hg18115433
hg17115433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4195, nssv1292
SamplesNA12878, NA19240
Known GenesBFAR, NPIPA2, NPIPA3, PLA2G10
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)nsv1740
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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