A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056362



Internal ID21188264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116775..35116775hg38UCSC Ensembl
chr19:35607679..35607679hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031963
SamplesNA12878
Known GenesFXYD3
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3056362
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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