A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020654



Internal ID21171409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25312520..25312844hg38UCSC Ensembl
chr18:22892484..22892808hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048022
Supporting Variants
SamplesNA12878
Known GenesZNF521
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)nssv14020654
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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