A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123807



Internal ID18925785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70663653..70663722hg38UCSC Ensembl
Outerchr4:71529370..71529439hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973968
SamplesKWS2
Known GenesIGJ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123807
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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