A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3394



Internal ID15547999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46294264..46343389hg38UCSC Ensembl
Outerchr20:44922903..44972027hg19UCSC Ensembl
Outerchr20:44356310..44405434hg18UCSC Ensembl
Outerchr20:44356310..44405434hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385587
hg195587
hg185587
hg175587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5880, nssv4536
SamplesNA12878, NA19129
Known GenesCDH22
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)nsv3394
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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