A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977684



Internal ID19242461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192739611..192744611hg38UCSC Ensembl
Outerchr3:192457400..192462400hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124879
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977684
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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