A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018278



Internal ID21156940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54169952..54169952hg38UCSC Ensembl
chr4:55036119..55036119hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062259
Supporting Variants
SamplesCHM1
Known Genes
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)nssv14018278
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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