A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv55



Internal ID15383813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122575775..122587364hg38UCSC Ensembl
Outerchr10:124335291..124346880hg19UCSC Ensembl
Outerchr10:124325281..124336870hg18UCSC Ensembl
Outerchr10:124325281..124336870hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3812965
hg1912965
hg1812965
hg1712965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv55
SamplesNA15510
Known GenesDMBT1
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)nsv55
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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