A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061754



Internal ID21193377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116767..35116767hg38UCSC Ensembl
chr19:35607671..35607671hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021769
SamplesCHM1
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)nsv3061754
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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