A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144007



Internal ID18917805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45073985..45075185hg38UCSC Ensembl
Outerchr21:46493900..46495100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n106
Supporting Variantsnssv3994719
SamplesKWS1
Known GenesADARB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144007
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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