A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984937



Internal ID18857075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1248512..1249512hg38UCSC Ensembl
Outerchr4:1242300..1243300hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126670
Supporting Variants
SamplesKWS1
Known GenesCTBP1, CTBP1-AS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984937
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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