A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1756



Internal ID15546319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:19592382..19624749hg38UCSC Ensembl
Outerchr16:19603704..19636071hg19UCSC Ensembl
Outerchr16:19511205..19543572hg18UCSC Ensembl
Outerchr16:19511205..19543572hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg389176
hg199176
hg189176
hg179176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2138, nssv7238
SamplesNA12156, NA18555
Known GenesC16orf62
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)nsv1756
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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