A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv134



Internal ID15383604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:5322712..5339004hg38UCSC Ensembl
Outerchr16:5372713..5389005hg19UCSC Ensembl
Outerchr16:5312714..5329006hg18UCSC Ensembl
Outerchr16:5312714..5329006hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811414
hg1911414
hg1811414
hg1711414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv134
SamplesNA15510
Known Genes
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)nsv134
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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