A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771183



Internal ID19307279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8105961..8106023hg38UCSC Ensembl
Outerchr19:8170845..8170907hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077683
Supporting Variants
SamplesKWP1
Known GenesFBN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771183
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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