A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391



Internal ID15547996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44658592..44712882hg38UCSC Ensembl
Outerchr20:43287233..43341523hg19UCSC Ensembl
Outerchr20:42720647..42774937hg18UCSC Ensembl
Outerchr20:42720647..42774937hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388687
hg198687
hg188687
hg178687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6943, nssv1605
SamplesNA12156, NA19240
Known GenesLOC79015
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3391
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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