A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126699



Internal ID18907622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145481748..145482148hg38UCSC Ensembl
Outerchr4:146402900..146403300hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984966
SamplesKWS1
Known GenesSMAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126699
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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