A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371



Internal ID15201288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37686147..37720941hg38UCSC Ensembl
Outerchr20:36314549..36349343hg19UCSC Ensembl
Outerchr20:35747963..35782757hg18UCSC Ensembl
Outerchr20:35747963..35782757hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg384948
hg194948
hg184948
hg174948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4532
SamplesNA12878
Known GenesCTNNBL1
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)nsv3371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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