A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061762



Internal ID21193385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158659597..158659925hg38UCSC Ensembl
chr1:158629387..158629715hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018115
SamplesCHM1
Known GenesSPTA1
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)nsv3061762
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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