A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv241



Internal ID15036749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:108007742..108052683hg38UCSC Ensembl
Outerchr3:107726589..107771530hg19UCSC Ensembl
Outerchr3:109209279..109254220hg18UCSC Ensembl
Outerchr3:109209279..109254220hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3844942
hg1944942
hg1844942
hg1744942
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv241
Supporting Variants
SamplesNA15510
Known GenesCD47
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)nssv241
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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