A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv73



Internal ID15383833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63412648..63425951hg38UCSC Ensembl
Outerchr11:63180120..63193423hg19UCSC Ensembl
Outerchr11:62936696..62949999hg18UCSC Ensembl
Outerchr11:62936696..62949999hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3817630
hg1917630
hg1817630
hg1717630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv73
SamplesNA15510
Known GenesMIR3680-1, MIR3680-2
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)nsv73
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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