A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992712



Internal ID18860349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125446054..125446173hg38UCSC Ensembl
Outerchr11:125315950..125316069hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141206
Supporting Variants
SamplesKWS1
Known GenesFEZ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992712
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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