A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122094



Internal ID18928523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182917147..182917547hg38UCSC Ensembl
Outerchr4:183838300..183838700hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969532
SamplesKWS2
Known GenesDCTD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122094
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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