A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994796



Internal ID19216335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16226177..16227077hg38UCSC Ensembl
Outerchr4:16227800..16228700hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144075
Supporting Variants
SamplesKWS1
Known GenesTAPT1, TAPT1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994796
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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