A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025543



Internal ID21174703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50822289..50822289hg38UCSC Ensembl
chr18:48348659..48348659hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054398
Supporting Variants
SamplesNA12878
Known GenesMRO
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)nssv14025543
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer