A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114574



Internal ID19270071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138135188..138135248hg38UCSC Ensembl
Outerchr4:139056342..139056402hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974485, nssv3986392
SamplesKWS2, KWS1
Known GenesSLC7A11-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114574
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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