A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021250



Internal ID21171871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51423424..51423424hg38UCSC Ensembl
chr18:48949794..48949794hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056292
Supporting Variants
SamplesNA12878
Known GenesLOC100287225
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)nssv14021250
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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