A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv141



Internal ID15036935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21581699..22667450hg38UCSC Ensembl
Outerchr16:21593020..22678771hg19UCSC Ensembl
Outerchr16:21500521..22586272hg18UCSC Ensembl
Outerchr16:21500521..22586272hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381085752
hg191085752
hg181085752
hg171085752
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n1
Supporting Variantsnssv141
SamplesNA15510
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv141
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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