A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967341



Internal ID18885808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1248512..1249212hg38UCSC Ensembl
Outerchr4:1242300..1243000hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112842
Supporting Variants
SamplesKWS2
Known GenesCTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967341
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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