A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977469



Internal ID18888087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:17500..68808hg38UCSC Ensembl
Outerchr4:17500..68700hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3851309
hg1951201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115660
Supporting Variants
SamplesKWS2
Known GenesZNF595, ZNF718
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977469
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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