A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1301



Internal ID15197734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21557952..22684850hg38UCSC Ensembl
Outerchr16:21569273..22696171hg19UCSC Ensembl
Outerchr16:21476774..22603672hg18UCSC Ensembl
Outerchr16:21476774..22603672hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381126899
hg191126899
hg181126899
hg171126899
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7280
Supporting Variants
SamplesNA19240
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
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)nssv1301
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