A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060351



Internal ID21192028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55266493..55266493hg38UCSC Ensembl
chr19:55777861..55777861hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381593
hg191593
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026112
SamplesCHM1
Known GenesHSPBP1
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)nsv3060351
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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