A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033859



Internal ID21156090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168793122..168793122hg38UCSC Ensembl
chr4:169714273..169714273hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066457
Supporting Variants
SamplesCHM1
Known GenesPALLD
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)nssv14033859
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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