A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057255



Internal ID21189106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866019..65866363hg38UCSC Ensembl
chr18:63533255..63533599hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv634n140
Supporting Variantsnssv14028888
SamplesCHM1
Known GenesCDH7
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)nsv3057255
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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