A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1927



Internal ID15199804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88712585..88743583hg38UCSC Ensembl
Outerchr16:88778993..88809991hg19UCSC Ensembl
Outerchr16:87306494..87337492hg18UCSC Ensembl
Outerchr16:87306494..87337492hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg385749
hg195749
hg185749
hg175749
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7296, nssv5621
SamplesNA19129, NA12156
Known GenesCTU2, LOC100289580, MIR4722, PIEZO1
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)nsv1927
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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