A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994783



Internal ID18874383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2042073..2042773hg38UCSC Ensembl
Outerchr4:2043800..2044500hg19UCSC 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 Variantsnsv1144067
Supporting Variants
SamplesKWS1
Known GenesC4orf48
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994783
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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