A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4204



Internal ID15192245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21545272..22698752hg38UCSC Ensembl
Outerchr16:21556593..22710073hg19UCSC Ensembl
Outerchr16:21464094..22617574hg18UCSC Ensembl
Outerchr16:21464094..22617574hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381153481
hg191153481
hg181153481
hg171153481
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7280
Supporting Variants
SamplesNA12878
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)nssv4204
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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