A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136325



Internal ID18920087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22583662..22584862hg38UCSC Ensembl
Outerchr20:22564300..22565500hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989946
SamplesKWS2
Known GenesFOXA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136325
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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