A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3n1



Internal ID18990471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21566494..22676529hg38UCSC Ensembl
chr16:21577815..22687850hg19UCSC Ensembl
chr16:21485316..22595351hg18UCSC Ensembl
chr16:21485316..22595351hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381110036
hg191110036
hg181110036
hg171110036
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv140, nsv141
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)dgv3n1
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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