A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv69



Internal ID15383828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47630891..47644880hg38UCSC Ensembl
Outerchr11:47652443..47666432hg19UCSC Ensembl
Outerchr11:47609019..47623008hg18UCSC Ensembl
Outerchr11:47609019..47623008hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg388593
hg198593
hg188593
hg178593
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv69
SamplesNA15510
Known GenesMTCH2
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)nsv69
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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