A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000731



Internal ID19186974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8105915..8109916hg38UCSC Ensembl
Outerchr19:8170799..8174800hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149429
Supporting Variants
SamplesKWB1
Known GenesFBN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000731
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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