A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2130



Internal ID15541413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3460128..3468873hg38UCSC Ensembl
Outerchr16:3510128..3518873hg19UCSC Ensembl
Outerchr16:3450129..3458874hg18UCSC Ensembl
Outerchr16:3450129..3458874hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388746
hg198746
hg188746
hg178746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1715
Supporting Variants
SamplesNA18555
Known GenesNAA60
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)nssv2130
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer