A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3300



Internal ID15201210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14771355..14968909hg38UCSC Ensembl
Outerchr20:14752001..14949555hg19UCSC Ensembl
Outerchr20:14700001..14897555hg18UCSC Ensembl
Outerchr20:14700001..14897555hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38197555
hg19197555
hg18197555
hg17197555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7657, nssv11035
SamplesNA12156, NA15510
Known GenesMACROD2, MACROD2-AS1
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)nsv3300
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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