A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv222



Internal ID15037025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95432439..95686215hg38UCSC Ensembl
Outerchr2:96098187..96351963hg19UCSC Ensembl
Outerchr2:95461914..95715690hg18UCSC Ensembl
Outerchr2:95520061..95773837hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38253777
hg19253777
hg18253777
hg17253777
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv222
SamplesNA15510
Known GenesTRIM43, TRIM43B
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)nsv222
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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