A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058025



Internal ID21189831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150366630..150366956hg38UCSC Ensembl
chr5:149746193..149746519hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031169
SamplesCHM1
Known GenesTCOF1
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)nsv3058025
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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