A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7280



Internal ID15205588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21545272..22699426hg38UCSC Ensembl
Outerchr16:21556593..22710747hg19UCSC Ensembl
Outerchr16:21464094..22618248hg18UCSC Ensembl
Outerchr16:21464094..22618248hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381154155
hg191154155
hg181154155
hg171154155
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10085, nssv9525, nssv4204, nssv10950, nssv4205, nssv6663, nssv5594, nssv10949, nssv6662, nssv5593, nssv1301, nssv9526, nssv9313
SamplesNA18517, NA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240
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)nsv7280
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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