A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv290



Internal ID15383777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160590042..160615932hg38UCSC Ensembl
Outerchr6:161011074..161036964hg19UCSC Ensembl
Outerchr6:160931064..160956954hg18UCSC Ensembl
Outerchr6:160981485..161007375hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3814106
hg1914106
hg1814106
hg1714106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv290
SamplesNA15510
Known GenesLPA
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)nsv290
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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