A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2148



Internal ID15541431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69928393..70180980hg38UCSC Ensembl
Outerchr16:69962296..70214883hg19UCSC Ensembl
Outerchr16:68519797..68772384hg18UCSC Ensembl
Outerchr16:68519797..68772384hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38252588
hg19252588
hg18252588
hg17252588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1853
Supporting Variants
SamplesNA18555
Known GenesCLEC18A, CLEC18C, MIR140, MIR1972-1, MIR1972-2, PDPR, PDXDC2P, WWP2
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)nssv2148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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