A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994857



Internal ID19211093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18264269..18264669hg38UCSC Ensembl
Outerchr6:18264500..18264900hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144134
Supporting Variants
SamplesKWS1
Known GenesDEK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994857
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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