A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020304



Internal ID21171265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55621511..55621511hg38UCSC Ensembl
chr18:53288742..53288742hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058553
Supporting Variants
SamplesNA12878
Known GenesTCF4
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)nssv14020304
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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