A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952987



Internal ID17301861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13219254..13222853hg38UCSC Ensembl
Outerchr20:13199901..13203500hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999923
SamplesBILGI_BIOE
Known GenesISM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952987
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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