A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145357



Internal ID18917245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550518..43553416hg38UCSC Ensembl
Outerchr21:44970399..44973297hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382899
hg192899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2399n106
Supporting Variantsnssv3982469
SamplesKWS1
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145357
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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