A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372



Internal ID15201289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38587142..38619210hg38UCSC Ensembl
Outerchr20:37215785..37247853hg19UCSC Ensembl
Outerchr20:36649199..36681267hg18UCSC Ensembl
Outerchr20:36649199..36681267hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg387682
hg197682
hg187682
hg177682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4533
SamplesNA12878
Known GenesADIG, ARHGAP40
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)nsv3372
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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