A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv82



Internal ID15037166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55315883..55331656hg38UCSC Ensembl
Outerchr12:55709667..55725440hg19UCSC Ensembl
Outerchr12:53995934..54011707hg18UCSC Ensembl
Outerchr12:53995934..54011707hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3813547
hg1913547
hg1813547
hg1713547
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv82
SamplesNA15510
Known GenesOR6C1
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)nsv82
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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