A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981278



Internal ID18875535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108214752..108215552hg38UCSC Ensembl
Outerchr13:108867100..108867900hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143599
Supporting Variants
SamplesKWS1
Known GenesLIG4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981278
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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