A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135



Internal ID15194732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16626736..18767717hg38UCSC Ensembl
Outerchr16:16720593..18779039hg19UCSC Ensembl
Outerchr16:16628094..18686540hg18UCSC Ensembl
Outerchr16:16628094..18686540hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382140982
hg192058447
hg182058447
hg172058447
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7278
Supporting Variants
SamplesNA18555
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, XYLT1
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)nssv2135
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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