A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417



Internal ID15201338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53579659..53613621hg38UCSC Ensembl
Outerchr20:52196198..52230160hg19UCSC Ensembl
Outerchr20:51629605..51663567hg18UCSC Ensembl
Outerchr20:51629605..51663567hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387036
hg197036
hg187036
hg177036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1609
SamplesNA19240
Known GenesZNF217
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)nsv3417
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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