A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973951



Internal ID18895648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54236716..54236783hg38UCSC Ensembl
Outerchr4:55102883..55102950hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123794
Supporting Variants
SamplesKWS2
Known GenesPDGFRA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973951
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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