A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999489



Internal ID19194522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198137728..198226329hg38UCSC Ensembl
Outerchr3:197864599..197953200hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3888602
hg1988602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146285
Supporting Variants
SamplesKWB1
Known GenesFAM157A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999489
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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