A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021013



Internal ID21171719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866011..65866355hg38UCSC Ensembl
chr18:63533247..63533591hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052662
Supporting Variants
SamplesNA12878
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)nssv14021013
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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