A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4202



Internal ID15538929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20613908..20648544hg38UCSC Ensembl
Outerchr16:20625230..20659866hg19UCSC Ensembl
Outerchr16:20532731..20567367hg18UCSC Ensembl
Outerchr16:20532731..20567367hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg385112
hg195112
hg185112
hg175112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1761
Supporting Variants
SamplesNA12878
Known GenesACSM1
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)nssv4202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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