A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977483



Internal ID19243946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:96409449..96417549hg38UCSC Ensembl
Outerchr4:97330600..97338700hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg388101
hg198101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115674
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977483
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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