A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048022



Internal ID21180069
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 StatusM
Merged Variantsdgv612n140
Supporting Variantsnssv14020654
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)nsv3048022
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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